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ANDREA BALLABIO

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address1250 MOURSUND STREET
Houston, TX 77030
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    Collapse Research 
    Collapse research activities and funding
    R13NS100248     (BALLABIO, ANDREA)Sep 30, 2016 - Aug 31, 2017
    NIH
    2017 Lysosomal Diseases Gordon Research Conference and Gordon Research Seminar
    Role: Principal Investigator
    R01NS078072     (BALLABIO, ANDREA)Sep 1, 2012 - Jun 30, 2021
    NIH
    Modulation of Cellular Clearance to Treat Human Disease
    Role: Principal Investigator
    R01EY015136     (BALLABIO, ANDREA)Sep 30, 2003 - Aug 31, 2008
    NIH
    Ocular Albinism type 1: from molecular bases to gene delivery
    Role: Principal Investigator
    R01GM046970     (CHINAULT, ALAN CRAIG)Feb 1, 1992 - Jan 31, 1997
    NIH
    XIST GENE AND ITS ROLE IN X-INACTIVATION
    Role: Co-Principal Investigator
    R01HD028333     (SHAFFER, LISA)Jul 15, 1991 - Jun 30, 1997
    NIH
    CLONING OF DISEASE GENES FROM THE HUMAN XP22.3 REGION
    Role: Co-Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Alesi N, Khabibullin D, Rosenthal DM, Akl EW, Cory PM, Alchoueiry M, Salem S, Daou M, Gibbons WF, Chen JA, Zhang L, Filippakis H, Graciotti L, Miceli C, Monfregola J, Vilardo C, Morroni M, Di Malta C, Napolitano G, Ballabio A, Henske EP. TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex. Nat Commun. 2024 Jan 09; 15(1):406. PMID: 38195686; PMCID: PMC10776564.
      Citations:    Fields:    Translation:Animals
    2. Valentini M, Sagi O, Baghumyan L, de Gijsel T, Jung J, Calcaterra S, Ballabio A, Aguilera Servin J, Aggarwal K, Janik M, Adletzberger T, Seoane Souto R, Leijnse M, Danon J, Schrade C, Bakkers E, Chrastina D, Isella G, Katsaros G. Parity-conserving Cooper-pair transport and ideal superconducting diode in planar germanium. Nat Commun. 2024 Jan 02; 15(1):169. PMID: 38167818; PMCID: PMC10762135.
      Citations: 1     Fields:    
    3. Chao X, Niu M, Wang S, Ma X, Yang X, Sun H, Hu X, Wang H, Zhang L, Huang R, Xia M, Ballabio A, Jaeschke H, Ni HM, Ding WX. High-throughput screening of novel TFEB agonists in protecting against acetaminophen-induced liver injury in mice. Acta Pharm Sin B. 2024 Jan; 14(1):190-206. PMID: 38261809; PMCID: PMC10793101.
      Citations:    
    4. Aufiero MA, Shlezinger N, Gjonbalaj M, Mills KAM, Ballabio A, Hohl TM. Dectin-1/CARD9 induction of the TFEB and TFE3 gene network is dispensable for phagocyte anti-Aspergillus activity in the lung. Infect Immun. 2023 Nov 16; 91(11):e0021723. PMID: 37861312; PMCID: PMC10652993.
      Citations:    Fields:    Translation:AnimalsCells
    5. Pasquier A, Pastore N, D'Orsi L, Colonna R, Esposito A, Maffia V, De Cegli R, Mutarelli M, Ambrosio S, Tufano G, Grimaldi A, Cesana M, Cacchiarelli D, Delalleau N, Napolitano G, Ballabio A. TFEB and TFE3 control glucose homeostasis by regulating insulin gene expression. EMBO J. 2023 11 02; 42(21):e113928. PMID: 37712288; PMCID: PMC10620765.
      Citations: 1     Fields:    Translation:AnimalsCells
    6. Calcagni' A, Staiano L, Zampelli N, Minopoli N, Herz NJ, Di Tullio G, Huynh T, Monfregola J, Esposito A, Cirillo C, Bajic A, Zahabiyon M, Curnock R, Polishchuk E, Parkitny L, Medina DL, Pastore N, Cullen PJ, Parenti G, De Matteis MA, Grumati P, Ballabio A. Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation. Nat Commun. 2023 07 03; 14(1):3911. PMID: 37400440; PMCID: PMC10317969.
      Citations: 3     Fields:    Translation:HumansCells
    7. Zhang X, Li S, Malik I, Do MH, Ji L, Chou C, Shi W, Capistrano KJ, Zhang J, Hsu TW, Nixon BG, Xu K, Wang X, Ballabio A, Schmidt LS, Linehan WM, Li MO. Reprogramming tumour-associated macrophages to outcompete cancer cells. Nature. 2023 Jul; 619(7970):616-623. PMID: 37380769; PMCID: PMC10719927.
      Citations: 12     Fields:    Translation:AnimalsCells
    8. Aufiero MA, Shlezinger N, Gjonbalaj M, Mills KAM, Ballabio A, Hohl TM. Dectin-1/CARD9-induction of the TFEB and TFE3 gene network is dispensable for phagocyte anti-Aspergillus activity in the lung. bioRxiv. 2023 Jun 13. PMID: 37398416; PMCID: PMC10312688.
      Citations:    
    9. Daly JL, Danson CM, Lewis PA, Zhao L, Riccardo S, Di Filippo L, Cacchiarelli D, Lee D, Cross SJ, Heesom KJ, Xiong WC, Ballabio A, Edgar JR, Cullen PJ. Multi-omic approach characterises the neuroprotective role of retromer in regulating lysosomal health. Nat Commun. 2023 05 29; 14(1):3086. PMID: 37248224; PMCID: PMC10227043.
      Citations: 4     Fields:    Translation:HumansCells
    10. Sambri I, Ferniani M, Campostrini G, Testa M, Meraviglia V, de Araujo MEG, Dokl?dal L, Vilardo C, Monfregola J, Zampelli N, Vecchio Blanco FD, Torella A, Ruosi C, Fecarotta S, Parenti G, Staiano L, Bellin M, Huber LA, De Virgilio C, Trepiccione F, Nigro V, Ballabio A. RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome. Nat Commun. 2023 05 15; 14(1):2775. PMID: 37188688; PMCID: PMC10185561.
      Citations:    Fields:    Translation:HumansCells
    11. Di Malta C, Zampelli A, Granieri L, Vilardo C, De Cegli R, Cinque L, Nusco E, Pece S, Tosoni D, Sanguedolce F, Sorrentino NC, Merino MJ, Nielsen D, Srinivasan R, Ball MW, Ricketts CJ, Vocke CD, Lang M, Karim B, Lanfrancone L, Schmidt LS, Linehan WM, Ballabio A. TFEB and TFE3 drive kidney cystogenesis and?tumorigenesis. EMBO Mol Med. 2023 05 08; 15(5):e16877. PMID: 36987696; PMCID: PMC10165358.
      Citations: 1     Fields:    Translation:HumansAnimals
    12. Cesana M, Tufano G, Panariello F, Zampelli N, Ambrosio S, De Cegli R, Mutarelli M, Vaccaro L, Ziller MJ, Cacchiarelli D, Medina DL, Ballabio A. EGR1 drives cell proliferation by directly stimulating TFEB transcription in response to starvation. PLoS Biol. 2023 03; 21(3):e3002034. PMID: 36888606; PMCID: PMC9994711.
      Citations:    Fields:    Translation:HumansCells
    13. Nakamura J, Yamamoto T, Takabatake Y, Namba-Hamano T, Minami S, Takahashi A, Matsuda J, Sakai S, Yonishi H, Maeda S, Matsui S, Matsui I, Takahashi M, Goto M, Izumi Y, Bamba T, Niimura F, Yanagita M, Nakamura S, Yoshimori T, Isaka Y, Hamano T, Sasai M, Yamamoto M, Matsusaka T, Ballabio A. TFEB-mediated lysosomal exocytosis alleviates high-fat diet-induced lipotoxicity in the kidney. JCI Insight. 2023 02 22; 8(4). PMID: 36649084; PMCID: PMC9977505.
      Citations:    Fields:    Translation:HumansAnimalsCells
    14. Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Pena T, Radhakrishnan K, Schr?der S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, G?rtner J, Monfregola J. Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO Mol Med. 2023 03 08; 15(3):e14837. PMID: 36789546; PMCID: PMC9994482.
      Citations: 1     Fields:    Translation:Humans
    15. Cui Z, Napolitano G, de Araujo MEG, Esposito A, Monfregola J, Huber LA, Ballabio A, Hurley JH. Structure of the lysosomal mTORC1-TFEB-Rag-Ragulator megacomplex. Nature. 2023 02; 614(7948):572-579. PMID: 36697823; PMCID: PMC9931586.
      Citations: 9     Fields:    Translation:Cells
    16. Piol D, Tosatto L, Zuccaro E, Anderson EN, Falconieri A, Polanco MJ, Marchioretti C, Lia F, White J, Bregolin E, Minervini G, Parodi S, Salvatella X, Arrigoni G, Ballabio A, La Spada AR, Tosatto SCE, Sambataro F, Medina DL, Pandey UB, Basso M, Pennuto M. Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function. Sci Adv. 2023 01 06; 9(1):eade1694. PMID: 36608116; PMCID: PMC9821870.
      Citations: 2     Fields:    Translation:Animals
    17. Nguyen THN, Koompai N, Turpaud V, Montesinos-Ballester M, Peltier J, Frigerio J, Ballabio A, Giani R, Coudevylle JR, Villebasse C, Bouville D, Alonso-Ramos C, Vivien L, Isella G, Marris-Morini D. 1 GHz electro-optical silicon-germanium modulator in the 5-9 ?m wavelength range. Opt Express. 2022 Dec 19; 30(26):47093-47102. PMID: 36558646.
      Citations:    Fields:    
    18. Sorrentino NC, Presa M, Attanasio S, Cacace V, Sofia M, Zuberi A, Ryan J, Ray S, Petkovic I, Radhakrishnan K, Schlotawa L, Ballabio A, Lutz C, Brunetti-Pierri N. New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency. J Inherit Metab Dis. 2023 03; 46(2):335-347. PMID: 36433920; PMCID: PMC10832386.
      Citations: 1     Fields:    Translation:HumansAnimals
    19. Tsujimoto K, Jo T, Nagira D, Konaka H, Park JH, Yoshimura SI, Ninomiya A, Sugihara F, Hirayama T, Itotagawa E, Matsuzaki Y, Takaichi Y, Aoki W, Saita S, Nakamura S, Ballabio A, Nada S, Okada M, Takamatsu H, Kumanogoh A. The lysosomal Ragulator complex activates NLRP3 inflammasome in?vivo via HDAC6. EMBO J. 2023 01 04; 42(1):e111389. PMID: 36444797; PMCID: PMC9811619.
      Citations: 4     Fields:    
    20. Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Luis Medina D, Spampanato C, Olind Fedele A, Polishchuk R, Sorrentino NC, Simons K, Ballabio A. Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. EMBO J. 2022 12 01; 41(23):e112402. PMID: 36321514; PMCID: PMC9713706.
      Citations:    Fields:    
    21. Nakamura S, Shigeyama S, Minami S, Shima T, Akayama S, Matsuda T, Esposito A, Napolitano G, Kuma A, Namba-Hamano T, Nakamura J, Yamamoto K, Sasai M, Tokumura A, Miyamoto M, Oe Y, Fujita T, Terawaki S, Takahashi A, Hamasaki M, Yamamoto M, Okada Y, Komatsu M, Nagai T, Takabatake Y, Xu H, Isaka Y, Ballabio A, Yoshimori T. Author Correction: LC3 lipidation is essential for TFEB activation during the lysosomal damage response to kidney injury. Nat Cell Biol. 2022 Nov; 24(11):1677-1679. PMID: 36195661.
      Citations:    Fields:    
    22. Vanacore GM, Chrastina D, Scalise E, Barbisan L, Ballabio A, Mauceri M, La Via F, Capitani G, Crippa D, Marzegalli A, Bergamaschini R, Miglio L. Nanostructured 3C-SiC on Si by a network of (111) platelets: a fully textured film generated by intrinsic growth anisotropy. Phys Chem Chem Phys. 2022 Oct 12; 24(39):24487-24494. PMID: 36193701.
      Citations:    Fields:    
    23. Astanina E, Doronzo G, Cor? D, Neri F, Oliviero S, Genova T, Mussano F, Middonti E, Vallariello E, Cencioni C, Valdembri D, Serini G, Limana F, Foglio E, Ballabio A, Bussolino F. The TFEB-TGIF1 axis regulates EMT in mouse epicardial cells. Nat Commun. 2022 09 03; 13(1):5191. PMID: 36057632; PMCID: PMC9440911.
      Citations:    
    24. Grimaldi A, Panariello F, Annunziata P, Giuliano T, Daniele M, Pierri B, Colantuono C, Salvi M, Bouch? V, Manfredi A, Cuomo MC, Di Concilio D, Tiberio C, Fiorenza M, Portella G, Cimmino I, Sorrentino A, Fusco G, Granata MR, Cerino P, Limone A, Atripaldi L, Ballabio A, Cacchiarelli D. Improved SARS-CoV-2 sequencing surveillance allows the identification of new variants and signatures in infected patients. Genome Med. 2022 08 12; 14(1):90. PMID: 35962405; PMCID: PMC9372932.
      Citations:    
    25. Schuster EM, Epple MW, Glaser KM, Mihlan M, Lucht K, Zimmermann JA, Bremser A, Polyzou A, Obier N, Cabezas-Wallscheid N, Trompouki E, Ballabio A, Buescher JM, Rambold AS, Vogel J, Westermann AJ. TFEB induces mitochondrial itaconate synthesis to suppress bacterial growth in macrophages. Nat Metab. 2022 07; 4(7):856-866. PMID: 35864246; PMCID: PMC9314259.
      Citations:    Fields:    Translation:Cells
    26. Napolitano G, Di Malta C, Ballabio A. Non-canonical mTORC1 signaling at the lysosome. Trends Cell Biol. 2022 Nov; 32(11):920-931. PMID: 35654731.
      Citations:    Fields:    
    27. Poletti P, Merler S, Ambrosio L, Chiara M, Lo Presti A, Alteri C, Cacchiarelli D, Bouch? V, Morgante M, Ballabio A, Perno CF, Pesole G, Stefanelli P. SARS-CoV-2 variants: what have we learnt so far? Commentary. Ann Ist Super Sanita. 2022 Apr-Jun; 58(2):81-84. PMID: 35722793.
      Citations:    Fields:    Translation:HumansCells
    28. Fernandez MR, Schaub FX, Yang C, Li W, Yun S, Schaub SK, Dorsey FC, Liu M, Steeves MA, Ballabio A, Tzankov A, Chen Z, Koomen JM, Berglund AE, Cleveland JL. Disrupting the MYC-TFEB Circuit Impairs Amino Acid Homeostasis and Provokes Metabolic Anergy. Cancer Res. 2022 04 01; 82(7):1234-1250. PMID: 35149590; PMCID: PMC9004540.
      Citations:    Fields:    Translation:HumansAnimalsCells
    29. Jirovec D, Mutter PM, Hofmann A, Crippa A, Rychetsky M, Craig DL, Kukucka J, Martins F, Ballabio A, Ares N, Chrastina D, Isella G, Burkard G, Katsaros G. Dynamics of Hole Singlet-Triplet Qubits with Large g-Factor Differences. Phys Rev Lett. 2022 Mar 25; 128(12):126803. PMID: 35394319.
      Citations:    Fields:    
    30. Ballabio A, Zoghbi H. C. Thomas Caskey (1938-2022). Science. 2022 Feb 25; 375(6583):824. PMID: 35201877.
      Citations:    Fields:    
    31. La Spina M, Azzolini M, Salmaso A, Parrasia S, Galletta E, Schiavone M, Chrisam M, Mattarei A, Di Benedetto G, Ballabio A, Tiso N, Zoratti M, Biasutto L. Multiple Mechanisms Converging on Transcription Factor EB Activation by the Natural Phenol Pterostilbene. Oxid Med Cell Longev. 2021; 2021:7658501. PMID: 34992716; PMCID: PMC8727145.
      Citations:    Fields:    Translation:HumansAnimalsCells
    32. Cui C, Chakraborty K, Tang XA, Schoenfelt KQ, Hoffman A, Blank A, McBeth B, Pulliam N, Reardon CA, Kulkarni SA, Vaisar T, Ballabio A, Krishnan Y, Becker L. A lysosome-targeted DNA nanodevice selectively targets macrophages to attenuate tumours. Nat Nanotechnol. 2021 12; 16(12):1394-1402. PMID: 34764452.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    33. De Cegli R, Testa B, Nixon RA, Ballabio A, Bordi M, Cecconi F. A gene toolbox for monitoring autophagy transcription. Cell Death Dis. 2021 11 02; 12(11):1044. PMID: 34728604; PMCID: PMC8563709.
      Citations: 2     Fields:    Translation:HumansCells
    34. Chao X, Wang S, Hlobik M, Ballabio A, Ni HM, Ding WX. Loss of Hepatic Transcription Factor EB Attenuates Alcohol-Associated Liver Carcinogenesis. Am J Pathol. 2022 01; 192(1):87-103. PMID: 34717896; PMCID: PMC8747011.
      Citations: 2     Fields:    Translation:Animals
    35. Goodwin JM, Walkup WG, Hooper K, Li T, Kishi-Itakura C, Ng A, Lehmberg T, Jha A, Kommineni S, Fletcher K, Garcia-Fortanet J, Fan Y, Tang Q, Wei M, Agrawal A, Budhe SR, Rouduri SR, Baird D, Saunders J, Kiselar J, Chance MR, Ballabio A, Appleton BA, Brumell JH, Florey O, Murphy LO. GABARAP sequesters the FLCN-FNIP tumor suppressor complex to couple autophagy with lysosomal biogenesis. Sci Adv. 2021 Oct; 7(40):eabj2485. PMID: 34597140; PMCID: PMC10938568.
      Citations: 3     Fields:    
    36. Bobrow M, Ferguson-Smith M, Romeo G, Ballabio A. Victor McKusick and his role in the founding of the European School of Genetic Medicine. Am J Med Genet A. 2021 11; 185(11):3253-3258. PMID: 34498367.
      Citations: 1     Fields:    Translation:Humans
    37. Klionsky DJ, Petroni G, Amaravadi RK, Baehrecke EH, Ballabio A, Boya P, Cadwell K, Cecconi F, Choi AMK, Choi ME, Chu CT, Codogno P, Cuervo AM, Deretic V, Dikic I, Elazar Z, Eskelinen EL, Fimia GM, Gewirtz DA, Green DR, Hansen M, Karantza V, Kraft C, Ktistakis NT, Kumar S, Macleod KF, Madeo F, Martinez J, Mizushima N, Penninger JM, Perera RM, Piacentini M, Reggiori F, Rubinsztein DC, Ryan KM, Sadoshima J, Santambrogio L, Scorrano L, Simon HU, Simon AK, Simonsen A, Stolz A, Tavernarakis N, Tooze SA, Yoshimori T, Yuan J, Yue Z, Zhong Q, Galluzzi L, Pietrocola F, Bravo-San Pedro JM, Colombo MI, J??ttel? M, Johansen T, Juh?sz G, Kroemer G, Lopez-Otin C, Mel?ndez A, M?nz C. Autophagy in major human diseases. EMBO J. 2021 10 01; 40(19):e108863. PMID: 34459017; PMCID: PMC8488577.
      Citations: 58     Fields:    Translation:HumansAnimalsCells
    38. Soldati C, Lopez-Fabuel I, Wanderlingh LG, Garcia-Macia M, Monfregola J, Esposito A, Napolitano G, Guevara-Ferrer M, Scotto Rosato A, Krogsaeter EK, Paquet D, Grimm CM, Montefusco S, Braulke T, Storch S, Mole SE, De Matteis MA, Ballabio A, Sampaio JL, McKay T, Johannes L, Medina DL, Bola?os JP. Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype. EMBO Mol Med. 2021 10 07; 13(10):e13742. PMID: 34411438; PMCID: PMC8495452.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    39. De Risi M, Tufano M, Alvino FG, Ferraro MG, Torromino G, Gigante Y, Monfregola J, Marrocco E, Pulcrano S, Tunisi L, Lubrano C, Tuchman Y, Salleo A, Santoro F, Bellenchi GC, Cristino L, Ballabio A, Fraldi A, De Leonibus E, Papy-Garcia D. Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders. Nat Commun. 2021 06 09; 12(1):3495. PMID: 34108486; PMCID: PMC8190083.
      Citations: 5     Fields:    Translation:AnimalsCells
    40. Jirovec D, Hofmann A, Ballabio A, Mutter PM, Tavani G, Botifoll M, Crippa A, Kukucka J, Sagi O, Martins F, Saez-Mollejo J, Prieto I, Borovkov M, Arbiol J, Chrastina D, Isella G, Katsaros G. A singlet-triplet hole spin qubit in planar Ge. Nat Mater. 2021 Aug; 20(8):1106-1112. PMID: 34083775.
      Citations: 3     Fields:    
    41. Verginelli F, Pisacane A, Gambardella G, D'Ambrosio A, Candiello E, Ferrio M, Panero M, Casorzo L, Benvenuti S, Cascardi E, Senetta R, Geuna E, Ballabio A, Montemurro F, Sapino A, Comoglio PM, Boccaccio C. Cancer of unknown primary stem-like cells model multi-organ metastasis and unveil liability to MEK inhibition. Nat Commun. 2021 05 03; 12(1):2498. PMID: 33941777; PMCID: PMC8093243.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    42. Yun S, Vincelette ND, Yu X, Watson GW, Fernandez MR, Yang C, Hitosugi T, Cheng CH, Freischel AR, Zhang L, Li W, Hou H, Schaub FX, Vedder AR, Cen L, McGraw KL, Moon J, Murphy DJ, Ballabio A, Kaufmann SH, Berglund AE, Cleveland JL. TFEB links MYC signaling to epigenetic control of myeloid differentiation and acute myeloid leukemia. Blood Cancer Discov. 2021 03; 2(2):162-185. PMID: 33860275; PMCID: PMC8043621.
      Citations: 8     Fields:    Translation:HumansCells
    43. Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almasan A, Alonso A, Altan-Bonnet N, Altieri DC, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antebi A, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araya J, Arden C, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Aroca A, Arsov I, Asaro DML, Aschner M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Autelli R, Avagliano L, Avin-Wittenberg T, Aydin Y, Ayton S, Ayyadevara S, Azzopardi M, Baba M, Backer JM, Backues SK, Bae DH, Bae ON, Bae SH, Baehrecke EH, Baek A, Baek SH, Baek SH, Bagetta G, Bagniewska-Zadworna A, Bai H, Bai J, Bai X, Bai Y, Bairagi N, Baksi S, Balbi T, Baldari CT, Balduini W, Ballabio A, Ballester M, Balazadeh S, Balzan R, Bandopadhyay R, Banerjee S, Banerjee S, Bao Y, Baracca A, Barbati C, Bargiela A, Barlow PG, Barmada SJ, Barreiro E, Barreto GE, Bartek J, Bartel B, Bartolome A, Barve GR, Basagoudanavar SH, Bassham DC, Bast RC, Basu A, Batoko H, Batten I, Baumgarner BL, Beale R, Bechara LRG, Beck GR, Beers MF, Begun J, Behrens GMN, Bei R, Bejarano E, Bel S, Behl C, Belaid A, Bellarosa C, Belleudi F, Benbrook DM, Bendorius M, Benitez BA, Benito-Cuesta I, Bensalem J, Berchtold MW, Berezowska S, Bergamaschi D, Bergami M, Bergmann A, Berliocchi L, Besirli CG, Besteiro S, Betin VM, Beyaert R, Bezbradica JS, Bhaskar K, Bhatia-Kissova I, Bhattacharya R, Bhattacharya S, Bhattacharyya S, Bhuiyan MS, Bhutia SK, Bi L, Bi X, Biden TJ, Bijian K, Birgisdottir AB, Bjorkoy G, Blanco G, Blas-Garcia A, Blasiak J, Blomgren K, Blum JS, Boada-Romero E, Boban M, Boesze-Battaglia K, Boeuf P, Boland B, Bomont P, Bonaldo P, Bonfili L, Bonifacino JS, Boone BA, Bootman MD, Bordi M, Borner C, Bornhauser BC, Borthakur G, Bose S, Botana LM, Botas J, Boulton ME, Bourdenx M, Bourgeois B, Bourke NM, Bousquet G, Bozhkov PV, Bozi LHM, Bozkurt TO, Brackney DE, Brandts CH, Braun RJ, Briones-Herrera A, Broaddus VC, Brodersen P, Brodsky JL, Brody SL, Bronson PG, Bronstein JM, Brown CN, Brown RE, Brum PC, Brumell JH, Brunetti-Pierri N, Bruno D, Bryson-Richardson RJ, Bucci C, Bueno M, Buitrago-Molina LE, Buraschi S, Buch S, Buchan JR, Buckingham EM, Budak H, Bultynck G, Burada F, Burgoyne JR, Bustos V, Butturini E, Byrd A, Cadwell K, Cai J, Cai L, Cai Q, Calbet JA, Caldwell GA, Caldwell KA, Call JA, Calvani R, Camonis JH, Camougrand N, Campanella M, Campbell EM, Campello S, Campos JC, Canesi L, Caniggia I, Canonico B, Cao B, Caraglia M, Carchman EH, Cardenas C, Cardoso SM, Carew JS, Carleton G, Carloni S, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carosi JM, Carra S, Carrier L, Carroll B, Carter AB, Carvalho AN, Casas J, Cassioli C, Castillo EF, Castillo-Lluva S, Castori M, Castro-Caldas M, Catz SD, Cavadas C, Cavaliere F, Cavallini G, Cavinato M, Cayuela ML, Cebollada Rica P, Cecarini V, Cechowska-Pasko M, Cenci S, Cervia D, Cetintas VB, Cetrullo S, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chakrabarti O, Chakraborty T, Chakraborty T, Chamilos G, Chan DW, Chan EYW, Chan ED, Chan HYE, Chan HH, Chan H, Chan MTV, Chan YS, Chandra PK, Chang CP, Chang C, Chang HC, Chang K, Chao J, Chapman T, Chatterjee S, Chaube SK, Chaudhary A, Chauhan S, Chaum E, Cheetham ME, Chen CS, Chen GC, Chen JF, Chen LL, Chen L, Chen L, Chen M, Chen MK, Chen N, Chen Q, Chen RH, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Autophagy. 2021 Jan; 17(1):1-382. PMID: 33634751; PMCID: PMC7996087.
      Citations: 357     Fields:    Translation:HumansAnimalsCells
    44. Sass F, Schlein C, Jaeckstein MY, Pertzborn P, Schweizer M, Schinke T, Ballabio A, Scheja L, Heeren J, Fischer AW. TFEB deficiency attenuates mitochondrial degradation upon brown adipose tissue whitening at thermoneutrality. Mol Metab. 2021 05; 47:101173. PMID: 33516944; PMCID: PMC7903014.
      Citations: 2     Fields:    Translation:AnimalsCells
    45. Parenti G, Medina DL, Ballabio A. The rapidly evolving view of lysosomal storage diseases. EMBO Mol Med. 2021 02 05; 13(2):e12836. PMID: 33459519; PMCID: PMC7863408.
      Citations: 31     Fields:    Translation:HumansCells
    46. Fedorov A, Bollani M, Ballabio A, Isella G, Toliopoulos D, Bietti S, Bonera E, Bouabdellaoui M, Abbarchi M, Tsukamoto S, Sanguinetti S. Solid-State Dewetting Dynamics of Amorphous Ge Thin Films on Silicon Dioxide Substrates. Nanomaterials (Basel). 2020 Dec 17; 10(12). PMID: 33348747; PMCID: PMC7766082.
      Citations:    
    47. Frigerio J, Ballabio A, Barzaghi A, Isella G, Montesinos-Ballester M, Lafforgue C, Vakarin V, Liu Q, Ramirez JM, Roux XL, Bouville D, Alonso-Ramos C, Vivien L, Marris-Morini D. On-Chip Mid-Infrared Supercontinuum Generation from 3 to 13 ?m Wavelength. ACS Photonics. 2020 Dec 16; 7(12):3423-3429. PMID: 33365361; PMCID: PMC7747866.
      Citations: 1     
    48. Peluso I, Soldati C, Napolitano G, Matarese M, Platt FM, Sobota A, Winter D, Medina DL, Ballabio A, Contreras PS, Tapia PJ, Gonz?lez-H?dar L, Heras ML, Valls C, Martinez A, Balboa E, Castro J, Leal N, Klein AD, Alvarez AR, Zanlungo S. c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder. iScience. 2020 Nov 20; 23(11):101691. PMID: 33163944; PMCID: PMC7607485.
      Citations: 11     
    49. Nakamura S, Shigeyama S, Minami S, Shima T, Akayama S, Matsuda T, Esposito A, Napolitano G, Kuma A, Namba-Hamano T, Nakamura J, Yamamoto K, Sasai M, Tokumura A, Miyamoto M, Oe Y, Fujita T, Terawaki S, Takahashi A, Hamasaki M, Yamamoto M, Okada Y, Komatsu M, Nagai T, Takabatake Y, Xu H, Isaka Y, Ballabio A, Yoshimori T. LC3 lipidation is essential for TFEB activation during the lysosomal damage response to kidney injury. Nat Cell Biol. 2020 10; 22(10):1252-1263. PMID: 32989250.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    50. Gambardella G, Staiano L, Moretti MN, De Cegli R, Fagnocchi L, Di Tullio G, Polletti S, Braccia C, Armirotti A, Zippo A, Ballabio A, De Matteis MA, di Bernardo D. GADD34 is a modulator of autophagy during starvation. Sci Adv. 2020 09; 6(39). PMID: 32978159; PMCID: PMC7518873.
      Citations: 8     Fields:    Translation:HumansCells
    51. Pedrini J, Biagioni P, Ballabio A, Barzaghi A, Bonzi M, Bonera E, Isella G, Pezzoli F. Broadband control of the optical properties of semiconductors through site-controlled self-assembly of microcrystals. Opt Express. 2020 Aug 17; 28(17):24981-24990. PMID: 32907029.
      Citations: 1     Fields:    
    52. Cinque L, De Leonibus C, Iavazzo M, Intartaglia D, Salierno FG, De Cegli R, Di Malta C, Svelto M, Lanzara C, Maddaluno M, Wanderlingh LG, Huebner AK, Cesana M, Bonn F, Polishchuk E, Conte I, Dikic I, Mann M, Ballabio A, Sacco F, Grumati P, Settembre C, Krahmer N, H?bner CA. MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B. EMBO J. 2020 09 01; 39(17):e105696. PMID: 32716134; PMCID: PMC7459426.
      Citations: 23     Fields:    Translation:HumansAnimalsCells
    53. Gallacher K, Millar RW, Paul DJ, Frigerio J, Ballabio A, Isella G, Rusconi F, Biagioni P, Giliberti V, Sorgi A, Baldassarre L, Ortolani M. Characterization of integrated waveguides by atomic-force-microscopy-assisted mid-infrared imaging and spectroscopy. Opt Express. 2020 Jul 20; 28(15):22186-22199. PMID: 32752485.
      Citations:    Fields:    
    54. Napolitano G, Di Malta C, Esposito A, de Araujo MEG, Pece S, Bertalot G, Matarese M, Benedetti V, Zampelli A, Stasyk T, Siciliano D, Venuta A, Cesana M, Vilardo C, Nusco E, Monfregola J, Di Fiore PP, Huber LA, Ballabio A, Calcagn? A. A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dub? syndrome. Nature. 2020 09; 585(7826):597-602. PMID: 32612235; PMCID: PMC7610377.
      Citations: 53     Fields:    Translation:HumansAnimalsCells
    55. Bryk R, Mundhra S, Jiang X, Wood M, Pfau D, Weber E, Park S, Zhang L, Wilson C, Van der Westhuyzen R, Street L, Chibale K, Zimmerman M, Pastore N, Ballabio A, Hawryluk N, Canan S, Khetani V, Camardo J, Nathan C, Dartois V. Potentiation of rifampin activity in a mouse model of tuberculosis by activation of host transcription factor EB. PLoS Pathog. 2020 06; 16(6):e1008567. PMID: 32574211; PMCID: PMC7337396.
      Citations: 3     Fields:    Translation:AnimalsCells
    56. Pastore N, Huynh T, Herz NJ, Calcagni' A, Klisch TJ, Brunetti L, Kim KH, De Giorgi M, Hurley A, Carissimo A, Mutarelli M, Aleksieva N, D'Orsi L, Lagor WR, Moore DD, Settembre C, Finegold MJ, Forbes SJ, Ballabio A. TFEB regulates murine liver cell fate during development and regeneration. Nat Commun. 2020 05 18; 11(1):2461. PMID: 32424153; PMCID: PMC7235048.
      Citations: 10     Fields:    Translation:AnimalsCells
    57. Pisonero-Vaquero S, Soldati C, Cesana M, Ballabio A, Medina DL. TFEB Modulates p21/WAF1/CIP1 during the DNA Damage Response. Cells. 2020 05 10; 9(5). PMID: 32397616; PMCID: PMC7290768.
      Citations: 6     Fields:    Translation:HumansCells
    58. Trivedi PC, Bartlett JJ, Mercer A, Slade L, Ballabio A, Flibotte S, Hussein B, Rodrigues B, Kienesberger PC, Pulinilkunnil T, Surette M. Loss of function of transcription factor EB remodels lipid metabolism and cell death pathways in the cardiomyocyte. Biochim Biophys Acta Mol Basis Dis. 2020 10 01; 1866(10):165832. PMID: 32437957.
      Citations: 7     Fields:    Translation:AnimalsCells
    59. Xu Y, Du S, Marsh JA, Horie K, Sato C, Ballabio A, Karch CM, Holtzman DM, Zheng H. TFEB regulates lysosomal exocytosis of tau and its loss of function exacerbates tau pathology and spreading. Mol Psychiatry. 2021 10; 26(10):5925-5939. PMID: 32366951; PMCID: PMC7609570.
      Citations: 17     Fields:    Translation:AnimalsCells
    60. Montesinos-Ballester M, Vakarin V, Liu Q, Le Roux X, Frigerio J, Ballabio A, Barzaghi A, Alonso-Ramos C, Vivien L, Isella G, Marris-Morini D. Ge-rich graded SiGe waveguides and interferometers from 5 to 11 ?m wavelength range. Opt Express. 2020 Apr 27; 28(9):12771-12779. PMID: 32403767.
      Citations: 1     Fields:    
    61. Peixoto E, Jin S, Thelen K, Biswas A, Richard S, Morleo M, Mansini A, Holtorf S, Carbone F, Pastore N, Ballabio A, Franco B, Gradilone SA. HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models. Am J Physiol Gastrointest Liver Physiol. 2020 06 01; 318(6):G1022-G1033. PMID: 32338033; PMCID: PMC7311663.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    62. Barzaghi A, Ballabio A, Valente J, Paul DJ, Isella G, Firoozabadi S, Salvalaglio M, Bergamaschini R, Beyer A, Albani M, Voigt A, Miglio L, Montalenti F, Volz K. Self-Assembly of Nanovoids in Si Microcrystals Epitaxially Grown on Deeply Patterned Substrates. Cryst Growth Des. 2020 May 06; 20(5):2914-2920. PMID: 33828439; PMCID: PMC8016367.
      Citations: 1     
    63. Naso F, Intartaglia D, Falanga D, Soldati C, Polishchuk E, Giamundo G, Tiberi P, Marrocco E, Scudieri P, Di Malta C, Trapani I, Nusco E, Salierno FG, Surace EM, Galietta LJ, Banfi S, Auricchio A, Ballabio A, Medina DL, Conte I. Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance. EMBO J. 2020 04 15; 39(8):e102468. PMID: 32154600; PMCID: PMC7156966.
      Citations: 10     Fields:    Translation:AnimalsCells
    64. Scotto Rosato A, Montefusco S, Soldati C, Di Paola S, Capuozzo A, Monfregola J, Polishchuk E, Amabile A, Lombardo A, De Matteis MA, Ballabio A, Medina DL, Grimm C. TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKK?/VPS34 pathway. Nat Commun. 2019 12 10; 10(1):5630. PMID: 31822666; PMCID: PMC6904751.
      Citations: 43     Fields:    Translation:HumansCells
    65. Kobayashi T, Piao W, Takamura T, Kori H, Miyachi H, Kitano S, Iwamoto Y, Yamada M, Imayoshi I, Shioda S, Ballabio A, Kageyama R. Enhanced lysosomal degradation maintains the quiescent state of neural stem cells. Nat Commun. 2019 11 29; 10(1):5446. PMID: 31784517; PMCID: PMC6884460.
      Citations: 25     Fields:    Translation:AnimalsCells
    66. Ballabio A, Esposito L, Fedorov A, Nemcsis A, Toth L, Isella G, Bietti S, Scaccabarozzi A, Vichi S, Vinattieri A, Mannucci C, Biccari F, Miglio L, Gurioli M, Sanguinetti S. GaAs epilayers grown on patterned (001) silicon substrates via suspended Ge layers. Sci Rep. 2019 Nov 26; 9(1):17529. PMID: 31772248; PMCID: PMC6879494.
      Citations:    Fields:    
    67. Ballabio A, Bonifacino JS. Lysosomes as dynamic regulators of cell and organismal homeostasis. Nat Rev Mol Cell Biol. 2020 02; 21(2):101-118. PMID: 31768005.
      Citations: 206     Fields:    Translation:HumansAnimalsCells
    68. Curnock R, Calcagni A, Ballabio A, Cullen PJ. TFEB controls retromer expression in response to nutrient availability. J Cell Biol. 2019 12 02; 218(12):3954-3966. PMID: 31694921; PMCID: PMC6891082.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    69. De Cegli R, Iacobacci S, Fedele A, Ballabio A, di Bernardo D. A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells. Sci Data. 2019 11 06; 6(1):262. PMID: 31695049; PMCID: PMC6834640.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    70. Javaheri A, Bajpai G, Picataggi A, Mani S, Foroughi L, Evie H, Kovacs A, Weinheimer CJ, Hyrc K, Xiao Q, Ballabio A, Lee JM, Matkovich SJ, Razani B, Schilling JD, Lavine KJ, Diwan A. TFEB activation in macrophages attenuates postmyocardial infarction ventricular dysfunction independently of ATG5-mediated autophagy. JCI Insight. 2019 11 01; 4(21). PMID: 31672943; PMCID: PMC6948771.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    71. Frigerio J, Ballabio A, Talamas E, Isella G, Montesinos-Ballester M, Liu Q, Vakarin V, Ramirez JM, Alonso-Ramos C, Roux XL, Vivien L, Marris-Morini D. On-chip Fourier-transform spectrometer based on spatial heterodyning tuned by thermo-optic effect. Sci Rep. 2019 Oct 10; 9(1):14633. PMID: 31601832; PMCID: PMC6787244.
      Citations: 3     Fields:    
    72. Zhang H, Alsaleh G, Feltham J, Sun Y, Napolitano G, Riffelmacher T, Charles P, Frau L, Hublitz P, Yu Z, Mohammed S, Ballabio A, Mellor J, Simon AK, Balabanov S. Polyamines Control eIF5A Hypusination, TFEB Translation, and Autophagy to Reverse B Cell Senescence. Mol Cell. 2019 10 03; 76(1):110-125.e9. PMID: 31474573; PMCID: PMC6863385.
      Citations: 62     Fields:    Translation:HumansAnimalsCells
    73. Ballabio A, Arotcarena ML, Bourdenx M, Dutheil N, Thiolat ML, Doudnikoff E, Dovero S, Fernagut PO, Meissner WG, Bezard E, Dehay B. Transcription factor EB overexpression prevents neurodegeneration in experimental synucleinopathies. JCI Insight. 2019 08 22; 4(16). PMID: 31434803; PMCID: PMC6777809.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    74. Pavlova EV, Shatunov A, Wartosch L, Moskvina AI, Nikolaeva LE, Bright NA, Tylee KL, Church HJ, Ballabio A, Luzio JP, Cox TM. The lysosomal disease caused by mutant VPS33A. Hum Mol Genet. 2019 08 01; 28(15):2514-2530. PMID: 31070736; PMCID: PMC6644154.
      Citations: 7     Fields:    Translation:HumansCells
    75. Pastore N, Ballabio A. Keeping the autophagy tempo. Autophagy. 2019 10; 15(10):1854-1856. PMID: 31318631; PMCID: PMC6735489.
      Citations: 2     Fields:    Translation:Animals
    76. Pastore N, Vainshtein A, Herz NJ, Huynh T, Brunetti L, Klisch TJ, Mutarelli M, Annunziata P, Kinouchi K, Brunetti-Pierri N, Sassone-Corsi P, Ballabio A. Nutrient-sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock. EMBO J. 2019 06 17; 38(12). PMID: 31126958; PMCID: PMC6576167.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    77. Vakarin V, Ye WN, Liu Q, Frigerio J, Ballabio A, Isella G, Vivien L, Alonso-Ramos C, Cheben P, Marris-Morini D, Ram?rez JM. Ultra-wideband Ge-rich silicon germanium mid-infrared polarization rotator with mode hybridization flattening. Opt Express. 2019 Apr 01; 27(7):9838-9847. PMID: 31045132.
      Citations: 1     Fields:    
    78. Wang S, Ni HM, Chao X, Wang H, Bridges B, Kumer S, Schmitt T, Mareninova O, Gukovskaya A, De Lisle RC, Ballabio A, Pacher P, Ding WX. Impaired TFEB-mediated lysosomal biogenesis promotes the development of pancreatitis in mice and is associated with human pancreatitis. Autophagy. 2019 11; 15(11):1954-1969. PMID: 30894069; PMCID: PMC6844531.
      Citations: 23     Fields:    Translation:HumansAnimalsCells
    79. Simola ET, De Iacovo A, Frigerio J, Ballabio A, Fabbri A, Isella G, Colace L. Voltage-tunable dual-band Ge/Si photodetector operating in VIS and NIR spectral range. Opt Express. 2019 Mar 18; 27(6):8529-8539. PMID: 31052668.
      Citations: 3     Fields:    
    80. Carballo-Carbajal I, Laguna A, Cuadros T, Martinez-Vicente M, Parent A, Gonzalez-Sepulveda M, Torra A, Ballabio A, Hasegawa T, Vila M, Romero-Gim?nez J, Bov? J, Pe?uelas N, Rodr?guez-Galv?n B, Bortolozzi A, Gelpi E. Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson's disease pathogenesis. Nat Commun. 2019 03 07; 10(1):973. PMID: 30846695; PMCID: PMC6405777.
      Citations: 67     Fields:    Translation:HumansAnimalsCells
    81. Ballabio A, Isella G, Duschek L, K?kelhan P, Beyer A, Firoozabadi S, Oelerich JO, Fuchs C, Stolz W, Volz K. Composition determination of semiconductor alloys towards atomic accuracy by HAADF-STEM. Ultramicroscopy. 2019 05; 200:84-96. PMID: 30844539.
      Citations: 2     Fields:    
    82. Ramirez JM, Liu Q, Vakarin V, Le Roux X, Frigerio J, Ballabio A, Alonso-Ramos C, Simola ET, Vivien L, Isella G, Marris-Morini D. Broadband integrated racetrack ring resonators for long-wave infrared photonics. Opt Lett. 2019 Jan 15; 44(2):407-410. PMID: 30644912.
      Citations: 1     Fields:    
    83. Doronzo G, Astanina E, Chiabotto G, Comunanza V, Noghero A, Neri F, Puliafito A, Primo L, Spampanato C, Settembre C, Ballabio A, Camussi G, Oliviero S, Bussolino F, Cor? D. TFEB controls vascular development by regulating the proliferation of endothelial cells. EMBO J. 2019 02 01; 38(3). PMID: 30591554; PMCID: PMC6356157.
      Citations: 17     Fields:    Translation:AnimalsCells
    84. Liu Q, Ramirez JM, Vakarin V, Le Roux X, Frigerio J, Ballabio A, Simola ET, Alonso-Ramos C, Benedikovic D, Bouville D, Vivien L, Isella G, Marris-Morini D. On-chip Bragg grating waveguides and Fabry-Perot resonators for long-wave infrared operation up to 8.4 ?m. Opt Express. 2018 Dec 24; 26(26):34366-34372. PMID: 30650859.
      Citations: 1     Fields:    
    85. Kinouchi K, Magnan C, Ceglia N, Liu Y, Cervantes M, Pastore N, Huynh T, Ballabio A, Baldi P, Masri S, Sassone-Corsi P. Fasting Imparts a Switch to Alternative Daily Pathways in Liver and Muscle. Cell Rep. 2018 12 18; 25(12):3299-3314.e6. PMID: 30566858; PMCID: PMC6433478.
      Citations: 40     Fields:    Translation:Animals
    86. Di Malta C, Ballabio A. Transcriptional regulation of mTORC1 in cancer. Oncotarget. 2018 Dec 04; 9(95):36734-36735. PMID: 30613362; PMCID: PMC6298413.
      Citations:    Fields:    
    87. Perera RM, Di Malta C, Ballabio A. MiT/TFE Family of Transcription Factors, Lysosomes, and Cancer. Annu Rev Cancer Biol. 2019 03; 3:203-222. PMID: 31650096; PMCID: PMC6812561.
      Citations: 37     
    88. Frigerio J, Ballabio A, Ortolani M, Virgilio M. Modeling of second harmonic generation in hole-doped silicon-germanium quantum wells for mid-infrared sensing. Opt Express. 2018 Nov 26; 26(24):31861-31872. PMID: 30650765.
      Citations:    Fields:    
    89. Rampanelli E, Ochodnicky P, Vissers JP, Butter LM, Claessen N, Calcagni A, Kors L, Gethings LA, Bakker SJ, de Borst MH, Navis GJ, Liebisch G, Speijer D, van den Bergh Weerman MA, Jung B, Aten J, Steenbergen E, Schmitz G, Ballabio A, Florquin S, Aerts JM, Leemans JC. Excessive dietary lipid intake provokes an acquired form of lysosomal lipid storage disease in the kidney. J Pathol. 2018 12; 246(4):470-484. PMID: 30073645.
      Citations: 14     Fields:    Translation:AnimalsCells
    90. Liu Q, Ramirez JM, Vakarin V, Le Roux X, Alonso-Ramos C, Frigerio J, Ballabio A, Talamas Simola E, Bouville D, Vivien L, Isella G, Marris-Morini D. Integrated broadband dual-polarization Ge-rich SiGe mid-infrared Fourier-transform spectrometer. Opt Lett. 2018 Oct 15; 43(20):5021-5024. PMID: 30320809.
      Citations: 2     Fields:    
    91. Ambrosio S, Ballabio A, Majello B. Histone methyl-transferases and demethylases in the autophagy regulatory network: the emerging role of KDM1A/LSD1 demethylase. Autophagy. 2019 02; 15(2):187-196. PMID: 30208749; PMCID: PMC6333462.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    92. Nnah IC, Wang B, Saqcena C, Weber GF, Bonder EM, Bagley D, De Cegli R, Napolitano G, Medina DL, Ballabio A, Dobrowolski R. TFEB-driven endocytosis coordinates MTORC1 signaling and autophagy. Autophagy. 2019 01; 15(1):151-164. PMID: 30145926; PMCID: PMC6287686.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    93. Napolitano G, Esposito A, Choi H, Matarese M, Benedetti V, Di Malta C, Monfregola J, Medina DL, Lippincott-Schwartz J, Ballabio A. mTOR-dependent phosphorylation controls TFEB nuclear export. Nat Commun. 2018 08 17; 9(1):3312. PMID: 30120233; PMCID: PMC6098152.
      Citations: 99     Fields:    Translation:HumansCells
    94. Basset FB, Scarpellini D, Fedorov A, Ballabio A, Esposito L, Elborg M, Kuroda T, Manzoni C, Vozzi C, Sanguinetti S, Bietti S, Nemcsics ?, T?th L. Ga metal nanoparticle-GaAs quantum molecule complexes for terahertz generation. Nanotechnology. 2018 Sep 07; 29(36):365602. PMID: 29911655.
      Citations:    Fields:    
    95. Chao X, Wang S, Zhao K, Li Y, Williams JA, Li T, Chavan H, Krishnamurthy P, He XC, Li L, Ballabio A, Ni HM, Ding WX. Impaired TFEB-Mediated Lysosome Biogenesis and Autophagy Promote Chronic Ethanol-Induced Liver Injury and Steatosis in?Mice. Gastroenterology. 2018 09; 155(3):865-879.e12. PMID: 29782848; PMCID: PMC6120772.
      Citations: 85     Fields:    Translation:AnimalsCells
    96. Puertollano R, Ferguson SM, Brugarolas J, Ballabio A. The complex relationship between TFEB transcription factor phosphorylation and subcellular localization. EMBO J. 2018 06 01; 37(11). PMID: 29764979; PMCID: PMC5983138.
      Citations: 144     Fields:    Translation:HumansCells
    97. Torra A, Parent A, Cuadros T, Ruiz-Bronchal E, Ballabio A, Vila M, Rodr?guez-Galv?n B, Bortolozzi A, Bov? J. Overexpression of TFEB Drives a Pleiotropic Neurotrophic Effect and Prevents Parkinson's Disease-Related Neurodegeneration. Mol Ther. 2018 06 06; 26(6):1552-1567. PMID: 29628303; PMCID: PMC5986717.
      Citations: 28     Fields:    Translation:Animals
    98. Ahrens-Nicklas R, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA, Schlotawa L, Gaertner J. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab. 2018 03; 123(3):337-346. PMID: 29397290; PMCID: PMC6856873.
      Citations: 7     Fields:    Translation:HumansCells
    99. Ramirez JM, Liu Q, Vakarin V, Frigerio J, Ballabio A, Le Roux X, Bouville D, Vivien L, Isella G, Marris-Morini D. Graded SiGe waveguides with broadband low-loss propagation in the mid infrared. Opt Express. 2018 Jan 22; 26(2):870-877. PMID: 29401966.
      Citations: 4     Fields:    
    100. Zurleni T, Cassiano A, Gjoni E, Ballabio A, Serio G, Marzoli L, Zurleni F. Correction to: Surgical and oncological outcomes after complete mesocolic excision in right-sided colon cancer compared with conventional surgery: a retrospective, single-institution study. Int J Colorectal Dis. 2018 01; 33(1):113-114. PMID: 29214343.
      Citations: 3     Fields:    
    101. Soria LR, Allegri G, Melck D, Pastore N, Annunziata P, Paris D, Polishchuk E, Nusco E, Motta A, Ballabio A, Brunetti-Pierri N, Th?ny B, H?berle J. Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia. Proc Natl Acad Sci U S A. 2018 01 09; 115(2):391-396. PMID: 29279371; PMCID: PMC5777051.
      Citations: 14     Fields:    Translation:HumansAnimals
    102. Gatto F, Rossi B, Tarallo A, Polishchuk E, Polishchuk R, Carrella A, Nusco E, Alvino FG, Iacobellis F, De Leonibus E, Auricchio A, Diez-Roux G, Ballabio A, Parenti G. AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease. Sci Rep. 2017 11 08; 7(1):15089. PMID: 29118420; PMCID: PMC5678083.
      Citations: 23     Fields:    Translation:AnimalsCells
    103. Frigerio J, Ballabio A, Isella G, Serna S, Vakarin V, Ramirez JM, Le Roux X, Vivien L, Cassan E, Dubreuil N, Marris-Morini D. Nonlinear Properties of Ge-rich Si1-xGex Materials with Different Ge Concentrations. Sci Rep. 2017 11 07; 7(1):14692. PMID: 29116201; PMCID: PMC5677089.
      Citations: 2     Fields:    
    104. Spampanato C, Barbier L, Muallem S, Maiuri P, Ballabio A, Piel M, Bretou M, S?ez PJ, Sans?au D, Maurin M, Lankar D, Chabaud M, Malbec O, Helft J, Vargas P, Lennon-Dum?nil AM. Lysosome signaling controls the migration of dendritic cells. Sci Immunol. 2017 10 27; 2(16). PMID: 29079589.
      Citations: 45     Fields:    Translation:AnimalsCells
    105. Zurleni T, Cassiano A, Gjoni E, Ballabio A, Serio G, Marzoli L, Zurleni F. Surgical and oncological outcomes after complete mesocolic excision in right-sided colon cancer compared with conventional surgery: a retrospective, single-institution study. Int J Colorectal Dis. 2018 Jan; 33(1):1-8. PMID: 29038964.
      Citations: 9     Fields:    Translation:Humans
    106. Di Malta C, Ballabio A. TFEB-mTORC1 feedback loop in metabolism and cancer. Cell Stress. 2017 Oct 01; 1(1):7-10. PMID: 31225432; PMCID: PMC6551658.
      Citations: 2     
    107. Bartolomeo R, Cinque L, De Leonibus C, Forrester A, Salzano AC, Monfregola J, De Gennaro E, Nusco E, Azario I, Lanzara C, Serafini M, Levine B, Ballabio A, Settembre C. mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy. J Clin Invest. 2017 Oct 02; 127(10):3717-3729. PMID: 28872463; PMCID: PMC5617676.
      Citations: 38     Fields:    Translation:AnimalsCells
    108. Vakarin V, Frigerio J, Ballabio A, Le Roux X, Liu Q, Bouville D, Vivien L, Isella G, Marris-Morini D, Ram?rez JM. Ultra-wideband Ge-rich silicon germanium integrated Mach-Zehnder interferometer for mid-infrared spectroscopy. Opt Lett. 2017 Sep 01; 42(17):3482-3485. PMID: 28957068.
      Citations: 3     Fields:    
    109. Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, Venturi C, Sviderskaya EV, Piccirillo R, Coppola M, Marigo V, Incerti B, Ballabio A, Surace EM, Tacchetti C, Bennett DC, Schiaffino MV. The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet. 2017 08 01; 26(15):3028-3029. PMID: 28854565; PMCID: PMC5886189.
      Citations: 1     Fields:    
    110. Sha Y, Rao L, Settembre C, Ballabio A, Eissa NT. STUB1 regulates TFEB-induced autophagy-lysosome pathway. EMBO J. 2017 09 01; 36(17):2544-2552. PMID: 28754656; PMCID: PMC5579343.
      Citations: 69     Fields:    Translation:HumansAnimalsCells
    111. Di Malta C, Siciliano D, Calcagni A, Monfregola J, Punzi S, Pastore N, Eastes AN, Davis O, De Cegli R, Zampelli A, Di Giovannantonio LG, Nusco E, Platt N, Guida A, Ogmundsdottir MH, Lanfrancone L, Perera RM, Zoncu R, Pelicci PG, Settembre C, Ballabio A. Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth. Science. 2017 06 16; 356(6343):1188-1192. PMID: 28619945; PMCID: PMC5730647.
      Citations: 86     Fields:    Translation:HumansAnimalsCells
    112. Galluzzi L, Baehrecke EH, Ballabio A, Cecconi F, Choi AM, Chu CT, Cuervo AM, Debnath J, Deretic V, Dikic I, Eskelinen EL, Fimia GM, Fulda S, Gewirtz DA, Green DR, Hansen M, Harper JW, Juhasz G, Kimmelman AC, Kraft C, Ktistakis NT, Kumar S, Levine B, Madeo F, Martens S, Martinez J, Melendez A, Mizushima N, Murphy LO, Penninger JM, Piacentini M, Reggiori F, Rubinsztein DC, Ryan KM, Santambrogio L, Scorrano L, Simon AK, Simon HU, Simonsen A, Tavernarakis N, Tooze SA, Yoshimori T, Yuan J, Yue Z, Zhong Q, Boya P, Bravo-San Pedro JM, Codogno P, Colombo MI, J??ttel? M, Johansen T, Lopez-Otin C, M?nz C, Kroemer G. Molecular definitions of autophagy and related processes. EMBO J. 2017 07 03; 36(13):1811-1836. PMID: 28596378; PMCID: PMC5494474.
      Citations: 577     Fields:    Translation:Animals
    113. Sergin I, Evans TD, Zhang X, Bhattacharya S, Stokes CJ, Song E, Ali S, Dehestani B, Holloway KB, Micevych PS, Javaheri A, Crowley JR, Ballabio A, Schilling JD, Epelman S, Weihl CC, Diwan A, Fan D, Zayed MA, Razani B. Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis. Nat Commun. 2017 06 07; 8:15750. PMID: 28589926; PMCID: PMC5467270.
      Citations: 112     Fields:    Translation:HumansAnimalsCells
    114. Pastore N, Vainshtein A, Klisch TJ, Armani A, Huynh T, Herz NJ, Polishchuk EV, Sandri M, Ballabio A. TFE3 regulates whole-body energy metabolism in cooperation with TFEB. EMBO Mol Med. 2017 05; 9(5):605-621. PMID: 28283651; PMCID: PMC5412821.
      Citations: 40     Fields:    Translation:AnimalsCells
    115. Pastore N, Attanasio S, Granese B, Castello R, Teckman J, Wilson AA, Ballabio A, Brunetti-Pierri N. Activation of the c-Jun N-terminal kinase pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin. Hepatology. 2017 06; 65(6):1865-1874. PMID: 28073160; PMCID: PMC5485069.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    116. Ramirez JM, Vakarin V, Frigerio J, Chaisakul P, Chrastina D, Le Roux X, Ballabio A, Vivien L, Isella G, Marris-Morini D. Ge-rich graded-index Si1-xGex waveguides with broadband tight mode confinement and flat anomalous dispersion for nonlinear mid-infrared photonics. Opt Express. 2017 Mar 20; 25(6):6561-6567. PMID: 28381003.
      Citations: 5     Fields:    
    117. Logaldo D, Costantini Brancadoro E, Ballabio A, Zurleni T. Splenic Artery Transposition Graft for Hepatic Artery Aneurysm and Occlusion. Ann Vasc Surg. 2017 Jul; 42:300.e7-300.e10. PMID: 28279726.
      Citations: 1     Fields:    Translation:Humans
    118. Sbano L, Bonora M, Marchi S, Baldassari F, Medina DL, Ballabio A, Giorgi C, Pinton P. TFEB-mediated increase in peripheral lysosomes regulates store-operated calcium entry. Sci Rep. 2017 01 13; 7:40797. PMID: 28084445; PMCID: PMC5233950.
      Citations: 14     Fields:    Translation:HumansCells
    119. Ramirez JM, Vakarin V, Gilles C, Frigerio J, Ballabio A, Chaisakul P, Roux XL, Alonso-Ramos C, Maisons G, Vivien L, Carras M, Isella G, Marris-Morini D. Low-loss Ge-rich Si0.2Ge0.8 waveguides for mid-infrared photonics. Opt Lett. 2017 Jan 01; 42(1):105-108. PMID: 28059186.
      Citations: 3     Fields:    
    120. Di Fruscio G, Banfi S, Nigro V, Ballabio A. Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex. Methods Mol Biol. 2017; 1594:227-241. PMID: 28456987.
      Citations: 3     Fields:    Translation:HumansCells
    121. Mansueto G, Armani A, Viscomi C, D'Orsi L, De Cegli R, Polishchuk EV, Lamperti C, Di Meo I, Romanello V, Marchet S, Saha PK, Zong H, Blaauw B, Solagna F, Tezze C, Grumati P, Bonaldo P, Pessin JE, Zeviani M, Sandri M, Ballabio A. Transcription Factor EB Controls Metabolic Flexibility during Exercise. Cell Metab. 2017 01 10; 25(1):182-196. PMID: 28011087; PMCID: PMC5241227.
      Citations: 122     Fields:    Translation:AnimalsCells
    122. Medina DL, Settembre C, Ballabio A. Methods to Monitor and Manipulate TFEB Activity During Autophagy. Methods Enzymol. 2017; 588:61-78. PMID: 28237119.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    123. Parenti G, Zuppaldi A, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Ballabio A, Andria G, Gabriela Pittis M, Donati A, Bembi B. Pharmacological Enhancement of Mutated a-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease. Mol Ther. 2007 Mar; 15(3):508-514. PMID: 28182897.
      Citations: 3     Fields:    
    124. Zito E, Buono M, Pepe S, Settembre C, Annunziata I, Surace EM, Dierks T, Monti M, Cozzolino M, Pucci P, Ballabio A, Cosma MP. Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. EMBO J. 2016 12 01; 35(23):2614-2615. PMID: 27908960; PMCID: PMC5283587.
      Citations:    Fields:    
    125. Zito E, Fraldi A, Pepe S, Annunziata I, Kobinger G, Di Natale P, Ballabio A, Cosma MP. Sulfatase activities are regulated by the interaction of the sulfatase-modifying factor 1 with SUMF2. EMBO Rep. 2016 12; 17(12):1901. PMID: 27909074; PMCID: PMC5283596.
      Citations: 1     Fields:    
    126. D'Assante R, Fusco A, Palamaro L, Polishchuk E, Polishchuk R, Bianchino G, Grieco V, Prencipe MR, Ballabio A, Pignata C. Abnormal cell-clearance and accumulation of autophagic vesicles in lymphocytes from patients affected with Ataxia-Teleangiectasia. Clin Immunol. 2017 02; 175:16-25. PMID: 27915003.
      Citations: 9     Fields:    Translation:HumansCells
    127. Skibitzki O, Capellini G, Yamamoto Y, Zaumseil P, Schubert MA, Schroeder T, Ballabio A, Bergamaschini R, Salvalaglio M, Miglio L, Montalenti F. Reduced-Pressure Chemical Vapor Deposition Growth of Isolated Ge Crystals and Suspended Layers on Micrometric Si Pillars. ACS Appl Mater Interfaces. 2016 Oct 05; 8(39):26374-26380. PMID: 27603117.
      Citations: 2     Fields:    
    128. Kors L, Verschuren E, De Cegli R, Zampelli N, Nusco E, Confalonieri S, Bertalot G, Pece S, Settembre C, Malouf GG, Leemans JC, de Heer E, Salvatore M, Peters DJ, Di Fiore PP, Ballabio A, Calcagn? A. Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling. Elife. 2016 Sep 26; 5. PMID: 27668431; PMCID: PMC5036965.
      Citations: 32     Fields:    
    129. De Leo MG, Staiano L, Vicinanza M, Luciani A, Carissimo A, Mutarelli M, Di Campli A, Polishchuk E, Di Tullio G, Morra V, Levtchenko E, Oltrabella F, Starborg T, Santoro M, Di Bernardo D, Devuyst O, Lowe M, Medina DL, Ballabio A, De Matteis MA. Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL. Nat Cell Biol. 2016 08; 18(8):839-850. PMID: 27398910; PMCID: PMC5040511.
      Citations: 76     Fields:    Translation:HumansAnimalsCells
    130. Napolitano G, Ballabio A. TFEB at a glance. J Cell Sci. 2016 07 01; 129(13):2475-81. PMID: 27252382; PMCID: PMC4958300.
      Citations: 270     Fields:    Translation:HumansCells
    131. Pastore N, Brady OA, Diab HI, Sun L, Huynh T, Lim JA, Zare H, Raben N, Ballabio A, Puertollano R, Martina JA. TFEB and TFE3 cooperate in the regulation of the innate immune response in activated macrophages. Autophagy. 2016 08 02; 12(8):1240-58. PMID: 27171064; PMCID: PMC4968228.
      Citations: 110     Fields:    Translation:HumansAnimalsCells
    132. Song JX, Sun YR, Peluso I, Zeng Y, Yu X, Lu JH, Xu Z, Wang MZ, Liu LF, Huang YY, Chen LL, Durairajan SS, Zhang HJ, Zhou B, Zhang HQ, Lu A, Ballabio A, Medina DL, Guo Z, Li M. A novel curcumin analog binds to and activates TFEB in vitro and in vivo independent of MTOR inhibition. Autophagy. 2016 08 02; 12(8):1372-89. PMID: 27172265; PMCID: PMC4968239.
      Citations: 61     Fields:    Translation:HumansAnimalsCells
    133. Polishchuk E, Montefusco S, Napolitano G, Zhang J, Polishchuk R, Medina DL, Catz SD, Ballabio A, Rega LR, Tozzi G, Bellomo F, Taranta A, Pastore A, Piemonte F, Emma F. Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells. Kidney Int. 2016 Apr; 89(4):862-73. PMID: 26994576.
      Citations: 48     Fields:    Translation:HumansCells
    134. Martini-Stoica H, Xu Y, Ballabio A, Zheng H. The Autophagy-Lysosomal Pathway in Neurodegeneration: A TFEB Perspective. Trends Neurosci. 2016 Apr; 39(4):221-234. PMID: 26968346; PMCID: PMC4928589.
      Citations: 134     Fields:    Translation:HumansAnimalsCells
    135. Millar RW, Gallacher K, Frigerio J, Ballabio A, Bashir A, MacLaren I, Isella G, Paul DJ. Analysis of Ge micro-cavities with in-plane tensile strains above 2. Opt Express. 2016 Mar 07; 24(5):4365-4374. PMID: 29092264.
      Citations: 3     Fields:    
    136. Reddy K, Cusack CL, Nnah IC, Khayati K, Saqcena C, Huynh TB, Noggle SA, Ballabio A, Dobrowolski R. Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. Cell Rep. 2016 Mar 08; 14(9):2166-2179. PMID: 26923592; PMCID: PMC4793148.
      Citations: 51     Fields:    Translation:HumansAnimalsCells
    137. Ballabio A. The awesome lysosome. EMBO Mol Med. 2016 Feb 01; 8(2):73-6. PMID: 26787653; PMCID: PMC4734841.
      Citations: 63     Fields:    Translation:HumansCells
    138. Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Akematsu T, Akporiaye ET, Al-Rubeai M, Albanese C, Albani D, Albert ML, Aldudo J, Alirezaei M, Alloza I, Almasan A, Alnemri ES, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Balaji KN, Balduini W, Ballabio A, Balzan R, Banerjee R, Bao H, Barrachina MD, Barreiro E, Bartel B, Bassham DC, Bassi MT, Bast RC, Basu A, Batista MT, Battino M, Bauckman K, Baumgarner BL, Bayer KU, Beale R, Beck GR, Beckham JD, Bednarski PJ, Begley TJ, Behl C, Behrends C, Behrens GM, Behrns KE, Bejarano E, Belaid A, Belleudi F, Berchem G, Bergamaschi D, Bergami M, Berkhout B, Berliocchi L, Bernassola F, Bertolotti A, Bess AS, Bettuzzi S, Bhalla S, Bhattacharyya S, Bhutia SK, Biagosch C, Bingol B, Bird SW, Bjedov I, Blackstone C, Blanc L, Blanco GA, Blomhoff HK, Boada-Romero E, Boes M, Boesze-Battaglia K, Boise LH, Bolino A, Bonaldo P, Bordi M, Boulton ME, Bouret SG, Bozhkov PV, Brady N, Braga VM, Brancolini C, Brennan LA, Bresnick EH, Brest P, Bridges D, Brini M, Brodin B, Brookes PS, Brown EJ, Brown K, Broxmeyer HE, Brumell JH, Brunetti-Pierri N, Bryson-Richardson RJ, Buch S, Buchan AM, Budak H, Bulavin DV, Bultman SJ, Bultynck G, Bumbasirevic V, Burke RE, Burmeister M, Caberlotto L, Cadwell K, Cahova M, Cai D, Cai J, Cai Q, Calatayud S, Campanella M, Campbell GR, Campbell M, Campello S, Caniggia I, Cantoni L, Cao L, Caplan AB, Caraglia M, Cardinali C, Cardoso SM, Carew JS, Carleton LA, Carlin CR, Carloni S, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carra S, Carroll B, Casas J, Cassinelli G, Castets P, Castro-Obregon S, Cavallini G, Ceccherini I, Cecconi F, Cederbaum AI, Cervia D, Cetrullo S, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chamilos G, Chan EY, Chan MT, Chandra D, Chandra P, Chang CP, Chang RC, Chang TY, Chatham JC, Chatterjee S, Chauhan S, Che Y, Cheetham ME, Cheluvappa R, Chen CJ, Chen G, Chen GC, Chen G, Chen H, Chen JW, Chen JK, Chen M, Chen M, Chen P, Chen Q, Chen Q, Chen SD, Chen S, Chen SS, Chen W, Chen WJ, Chen WQ, Chen W, Chen X, Chen YH, Chen YG, Chen Y, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen Y, Chen Z, Chen Z, Cheng A, Cheng CH, Cheng H, Cheong H, Cherry S, Chesney J, Cheung CH, Chi HC, Chi SG, Chiacchiera F, Chiang HL, Chiarelli R, Chiariello M, Chieppa M, Chin LS, Chiong M, Chiu GN, Cho DH, Cho SG, Cho WC, Cho YY, Cho YS, Choi AM, Choi EJ, Choi EK, Choi J, Choi ME, Choi SI, Chou TF, Chouaib S, Choubey D, Choubey V, Chow KC, Chu CT, Chuang TH, Chun T, Chung H, Chung T, Chung YL, Chwae YJ, Cianfanelli V, Ciarcia R, Ciechomska IA, Ciriolo MR, Cirone M, Claerhout S, Clague MJ, Clarke PG, Clarke R, Clementi E, Cnop M, Cocco T, Cohen EE, Colecchia D, Coletto L, Comincini S, Condello M, Cook KL, Coombs GH, Cooper CD, Cooper JM, Coppens I, Corasaniti MT, Corazzari M, Corbalan R, Corcelle-Termeau E, Cordero MD, Corti O, Cossarizza A, Costelli P, Costes S, Cotman SL, Coto-Montes A, Cottet S, Covey LR, Cowart LA, Cox JS, Coxon FP, Coyne CB, Cragg MS, Craven RJ, Crepaldi T, Criollo A, Crippa V, Cruz MT, Cuervo AM, Cuezva JM, Cui T, Cutillas PR, Czaja MJ, Czyzyk-Krzeska MF, Dagda RK, Dahmen U, Dai C, Dai W, Dai Y, Dalby KN, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016; 12(1):1-222. PMID: 26799652; PMCID: PMC4835977.
      Citations: 2567     Fields:    Translation:HumansAnimals
    139. Espinosa AP, Leone L, Sardiello M, Ballabio A, Botas J, Bouch? V. Drosophila Mitf regulates the V-ATPase and the lysosomal-autophagic pathway. Autophagy. 2016; 12(3):484-98. PMID: 26761346; PMCID: PMC4835958.
      Citations: 48     Fields:    Translation:AnimalsCells
    140. Vakarin V, Chaisakul P, Frigerio J, Ballabio A, Le Roux X, Bouville D, Perez-Galacho D, Vivien L, Isella G, Marris-Morini D, Coudevylle JR. Sharp bends and Mach-Zehnder interferometer based on Ge-rich-SiGe waveguides on SiGe graded buffer. Opt Express. 2015 Nov 30; 23(24):30821-6. PMID: 26698715.
      Citations: 2     Fields:    
    141. Xiao Q, Yan P, Ma X, Liu H, Perez R, Zhu A, Gonzales E, Tripoli DL, Czerniewski L, Ballabio A, Cirrito JR, Diwan A, Lee JM. Neuronal-Targeted TFEB Accelerates Lysosomal Degradation of APP, Reducing A? Generation and Amyloid Plaque Pathogenesis. J Neurosci. 2015 Sep 02; 35(35):12137-51. PMID: 26338325; PMCID: PMC4556784.
      Citations: 95     Fields:    Translation:AnimalsCells
    142. Esposito L, Fedorov A, Ballabio A, Martinelli A, Sanguinetti S, Bietti S. Characterization and Effect of Thermal Annealing on InAs Quantum Dots Grown by Droplet Epitaxy on GaAs(111)A Substrates. Nanoscale Res Lett. 2015 Dec; 10(1):930. PMID: 26058506; PMCID: PMC4467813.
      Citations: 2     
    143. Ballabio A, Naldini L. Fighting rare diseases: the model of the telethon research institutes in Italy. Hum Gene Ther. 2015 Apr; 26(4):183-5. PMID: 25901396.
      Citations: 1     Fields:    Translation:HumansAnimals
    144. Medina DL, Di Paola S, Peluso I, Armani A, De Stefani D, Venditti R, Montefusco S, Scotto-Rosato A, Prezioso C, Forrester A, Settembre C, Wang W, Gao Q, Xu H, Sandri M, Rizzuto R, De Matteis MA, Ballabio A. Lysosomal calcium signalling regulates autophagy through calcineurin and ?TFEB. Nat Cell Biol. 2015 Mar; 17(3):288-99. PMID: 25720963; PMCID: PMC4801004.
      Citations: 519     Fields:    Translation:HumansAnimalsCells
    145. Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015; 66:471-86. PMID: 25587658.
      Citations: 129     Fields:    Translation:Humans
    146. Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A. Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy. 2015; 11(6):928-38. PMID: 26075876; PMCID: PMC4502703.
      Citations: 25     Fields:    Translation:HumansCells
    147. Lapierre LR, Kumsta C, Sandri M, Ballabio A, Hansen M. Transcriptional and epigenetic regulation of autophagy in aging. Autophagy. 2015; 11(6):867-80. PMID: 25836756; PMCID: PMC4502732.
      Citations: 134     Fields:    Translation:HumansAnimals
    148. Medina DL, Ballabio A. Lysosomal calcium regulates autophagy. Autophagy. 2015; 11(6):970-1. PMID: 26000950; PMCID: PMC4502748.
      Citations: 50     Fields:    Translation:HumansAnimalsCells
    149. Frankel LB, Di Malta C, Wen J, Eskelinen EL, Ballabio A, Lund AH. A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder. Nat Commun. 2014 Dec 19; 5:5840. PMID: 25524633.
      Citations: 16     Fields:    Translation:HumansCells
    150. Garavelli L, Santoro L, Iori A, Gargano G, Braibanti S, Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, Iughetti L, Gelmini C, Bernasconi S, Superti-Furga A, Ballabio A, Gabrielli O. Multiple sulfatase deficiency with neonatal manifestation. Ital J Pediatr. 2014 Dec 17; 40:86. PMID: 25516103; PMCID: PMC4299397.
      Citations: 7     Fields:    Translation:Humans
    151. Settembre C, Ballabio A. Cell metabolism: autophagy transcribed. Nature. 2014 Dec 04; 516(7529):40-1. PMID: 25383529.
      Citations: 12     Fields:    Translation:AnimalsCells
    152. Quintavalle C, Di Costanzo S, Zanca C, Tasset I, Fraldi A, Incoronato M, Mirabelli P, Monti M, Ballabio A, Pucci P, Cuervo AM, Condorelli G. Phosphorylation-regulated degradation of the tumor-suppressor form of PED by chaperone-mediated autophagy in lung cancer cells. J Cell Physiol. 2014 Oct; 229(10):1359-68. PMID: 24477641; PMCID: PMC4310550.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    153. Polito VA, Li H, Martini-Stoica H, Wang B, Yang L, Xu Y, Swartzlander DB, Palmieri M, di Ronza A, Lee VM, Sardiello M, Ballabio A, Zheng H. Selective clearance of aberrant tau proteins and rescue of neurotoxicity by transcription factor EB. EMBO Mol Med. 2014 Sep; 6(9):1142-60. PMID: 25069841; PMCID: PMC4197862.
      Citations: 152     Fields:    Translation:AnimalsCells
    154. Emanuel R, Sergin I, Bhattacharya S, Turner J, Epelman S, Settembre C, Diwan A, Ballabio A, Razani B. Induction of lysosomal biogenesis in atherosclerotic macrophages can rescue lipid-induced lysosomal dysfunction and downstream sequelae. Arterioscler Thromb Vasc Biol. 2014 Sep; 34(9):1942-1952. PMID: 25060788; PMCID: PMC4140993.
      Citations: 97     Fields:    Translation:AnimalsCells
    155. Settembre C, Ballabio A. Lysosome: regulator of lipid degradation pathways. Trends Cell Biol. 2014 Dec; 24(12):743-50. PMID: 25061009; PMCID: PMC4247383.
      Citations: 77     Fields:    Translation:HumansCells
    156. Pepe S, Ballabio A, Dursun O, Nur BG, Mih?i E, Biberoglu G, Ezg? FS, ?ztekin O. Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature. Turk J Pediatr. 2014 Jul-Aug; 56(4):418-22. PMID: 25818962.
      Citations: 3     Fields:    Translation:Humans
    157. Polishchuk EV, Concilli M, Iacobacci S, Chesi G, Pastore N, Piccolo P, Paladino S, Baldantoni D, van IJzendoorn SC, Chan J, Chang CJ, Amoresano A, Pane F, Pucci P, Tarallo A, Parenti G, Brunetti-Pierri N, Settembre C, Ballabio A, Polishchuk RS. Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis. Dev Cell. 2014 Jun 23; 29(6):686-700. PMID: 24909901; PMCID: PMC4070386.
      Citations: 84     Fields:    Translation:HumansAnimalsCells
    158. Settembre C, Ballabio A. Lysosomal adaptation: how the lysosome responds to external cues. Cold Spring Harb Perspect Biol. 2014 May 05; 6(6). PMID: 24799353; PMCID: PMC4031961.
      Citations: 46     Fields:    Translation:HumansCells
    159. Deiva K, Adamsbaum C, Vincent F, Hocquemiller M, Broissand C, Ballabio A, Fraldi A, Crystal RG, Baugnon T, Roujeau T, Heard JM, Danos O, Tardieu M, Z?rah M, Husson B, de Bournonville S, Furlan V. Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. Hum Gene Ther. 2014 Jun; 25(6):506-16. PMID: 24524415.
      Citations: 108     Fields:    Translation:HumansCellsCTClinical Trials
    160. Moskot M, Montefusco S, Mozolewski P, Wegrzyn A, Di Bernardo D, Wegrzyn G, Medina DL, Ballabio A, Gabig-Ciminska M, Jak?bkiewicz-Banecka J. The phytoestrogen genistein modulates lysosomal metabolism and transcription factor EB (TFEB) activation. J Biol Chem. 2014 Jun 13; 289(24):17054-69. PMID: 24770416; PMCID: PMC4059147.
      Citations: 59     Fields:    Translation:HumansCells
    161. Zurleni T, Gjoni E, Ballabio A, Casieri R, Ceriani P, Marzoli L, Zurleni F. Sixth and seventh tumor-node-metastasis staging system compared in gastric cancer patients. World J Gastrointest Surg. 2013 Nov 27; 5(11):287-93. PMID: 24520426; PMCID: PMC3920116.
      Citations: 8     
    162. Settembre C, Ballabio A. New targets for old diseases: lessons from mucolipidosis type II. EMBO Mol Med. 2013 Dec; 5(12):1801-3. PMID: 24293315; PMCID: PMC3914528.
      Citations:    Fields:    Translation:HumansAnimalsCells
    163. Vantaggiato C, Crimella C, Airoldi G, Polishchuk R, Bonato S, Brighina E, Scarlato M, Musumeci O, Toscano A, Martinuzzi A, Santorelli FM, Ballabio A, Bresolin N, Clementi E, Bassi MT. Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15. Brain. 2013 Oct; 136(Pt 10):3119-39. PMID: 24030950; PMCID: PMC3784282.
      Citations: 36     Fields:    Translation:HumansCells
    164. Serio G, Zampatti C, Ballabio A, Ricci R, Martini M, Zurleni F. Neurofibromatosis 1 presenting with multiple duodenal GISTS associated with a somatostatin-producing D cell neoplasm. Endocr Pathol. 2013 Jun; 24(2):100-5. PMID: 23564025.
      Citations: 2     Fields:    Translation:Humans
    165. Feeney EJ, Spampanato C, Puertollano R, Ballabio A, Parenti G, Raben N. What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease. Autophagy. 2013 Jul; 9(7):1117-8. PMID: 23669057; PMCID: PMC3722326.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    166. Settembre C, Fraldi A, Medina DL, Ballabio A. Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat Rev Mol Cell Biol. 2013 May; 14(5):283-96. PMID: 23609508; PMCID: PMC4387238.
      Citations: 607     Fields:    Translation:HumansAnimalsCells
    167. Settembre C, De Cegli R, Mansueto G, Saha PK, Vetrini F, Visvikis O, Huynh T, Carissimo A, Palmer D, Wollenberg AC, Di Bernardo D, Chan L, Irazoqui JE, Ballabio A, Klisch TJ. TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop. Nat Cell Biol. 2013 Jun; 15(6):647-58. PMID: 23604321; PMCID: PMC3699877.
      Citations: 449     Fields:    Translation:HumansAnimalsCells
    168. Spampanato C, Feeney E, Li L, Cardone M, Lim JA, Annunziata F, Zare H, Polishchuk R, Puertollano R, Parenti G, Ballabio A, Raben N. Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. EMBO Mol Med. 2013 May; 5(5):691-706. PMID: 23606558; PMCID: PMC3662313.
      Citations: 166     Fields:    Translation:AnimalsCells
    169. Ferron M, Settembre C, Shimazu J, Lacombe J, Kato S, Rawlings DJ, Ballabio A, Karsenty G. A RANKL-PKC?-TFEB signaling cascade is necessary for lysosomal biogenesis in osteoclasts. Genes Dev. 2013 Apr 15; 27(8):955-69. PMID: 23599343; PMCID: PMC3650231.
      Citations: 86     Fields:    Translation:AnimalsCells
    170. Pastore N, Ballabio A, Brunetti-Pierri N. Autophagy master regulator TFEB induces clearance of toxic SERPINA1/a-1-antitrypsin polymers. Autophagy. 2013 Jul; 9(7):1094-6. PMID: 23584152; PMCID: PMC3722318.
      Citations: 24     Fields:    Translation:HumansAnimals
    171. Sorrentino NC, D'Orsi L, Sambri I, Nusco E, Monaco C, Spampanato C, Polishchuk E, Saccone P, De Leonibus E, Ballabio A, Fraldi A. A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA. EMBO Mol Med. 2013 May; 5(5):675-90. PMID: 23568409; PMCID: PMC3662312.
      Citations: 55     Fields:    Translation:AnimalsCells
    172. Pastore N, Blomenkamp K, Annunziata F, Piccolo P, Mithbaokar P, Maria Sepe R, Vetrini F, Palmer D, Ng P, Polishchuk E, Iacobacci S, Polishchuk R, Teckman J, Ballabio A, Brunetti-Pierri N. Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency. EMBO Mol Med. 2013 Mar; 5(3):397-412. PMID: 23381957; PMCID: PMC3598080.
      Citations: 73     Fields:    Translation:HumansAnimalsCells
    173. Simon AK, Ballabio A. T. rex attacks the lysosome. Nat Immunol. 2013 Jan; 14(1):10-2. PMID: 23238750.
      Citations:    Fields:    Translation:HumansAnimalsCells
    174. Bachetti T, Chiesa S, Castagnola P, Bani D, Di Zanni E, Omenetti A, D'Osualdo A, Fraldi A, Ballabio A, Ravazzolo R, Martini A, Gattorno M, Ceccherini I. Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS). Ann Rheum Dis. 2013 Jun; 72(6):1044-52. PMID: 23117241.
      Citations: 40     Fields:    Translation:HumansCells
    175. Di Malta C, Fryer JD, Settembre C, Ballabio A. Autophagy in astrocytes: a novel culprit in lysosomal storage disorders. Autophagy. 2012 Dec; 8(12):1871-2. PMID: 23047468; PMCID: PMC3541309.
      Citations: 21     Fields:    Translation:AnimalsCells
    176. Di Malta C, Fryer JD, Settembre C, Ballabio A. Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder. Proc Natl Acad Sci U S A. 2012 Aug 28; 109(35):E2334-42. PMID: 22826245; PMCID: PMC3435187.
      Citations: 52     Fields:    Translation:AnimalsCells
    177. Lieberman AP, Puertollano R, Raben N, Slaugenhaupt S, Walkley SU, Ballabio A. Autophagy in lysosomal storage disorders. Autophagy. 2012 May 01; 8(5):719-30. PMID: 22647656; PMCID: PMC3378416.
      Citations: 177     Fields:    Translation:HumansAnimals
    178. Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, Al-Younes HM, Al-Zeer MA, Albert ML, Albin RL, Alegre-Abarrategui J, Aleo MF, Alirezaei M, Almasan A, Almonte-Becerril M, Amano A, Amaravadi R, Amarnath S, Amer AO, Andrieu-Abadie N, Anantharam V, Ann DK, Anoopkumar-Dukie S, Aoki H, Apostolova N, Arancia G, Aris JP, Asanuma K, Asare NY, Ashida H, Askanas V, Askew DS, Auberger P, Baba M, Backues SK, Baehrecke EH, Bahr BA, Bai XY, Bailly Y, Baiocchi R, Baldini G, Balduini W, Ballabio A, Bamber BA, Bampton ET, Bartholomew CR, Bassham DC, Bast RC, Batoko H, Bay BH, Beau I, Begley TJ, Behl C, Behrends C, Bekri S, Bellaire B, Bendall LJ, Benetti L, Berliocchi L, Bernardi H, Bernassola F, Bhatia-Kissova I, Bi X, Biard-Piechaczyk M, Blum JS, Boise LH, Bonaldo P, Boone DL, Bornhauser BC, Bortoluci KR, Bossis I, Bourquin JP, Boya P, Bozhkov PV, Brady NR, Brancolini C, Brech A, Brenman JE, Brennand A, Bresnick EH, Brest P, Bridges D, Bristol ML, Brookes PS, Brown EJ, Brumell JH, Brunetti-Pierri N, Brunk UT, Bulman DE, Bultman SJ, Bultynck G, Burbulla LF, Bursch W, Butchar JP, Buzgariu W, Bydlowski SP, Cadwell K, Cai D, Cai J, Cai Q, Calabretta B, Calvo-Garrido J, Camougrand N, Campanella M, Campos-Salinas J, Candi E, Cao L, Caplan AB, Carding SR, Cardoso SM, Carew JS, Carlin CR, Carmignac V, Carneiro LA, Carra S, Caruso RA, Casari G, Casas C, Castino R, Cebollero E, Cecconi F, Celli J, Chaachouay H, Chae HJ, Chai CY, Chan DC, Chan EY, Chang RC, Che CM, Chen CC, Chen GC, Chen GQ, Chen M, Chen Q, Chen SS, Chen W, Chen X, Chen X, Chen X, Chen YG, Chen Y, Chen Y, Chen YJ, Chen Z, Cheng A, Cheng CH, Cheng Y, Cheong H, Cheong JH, Cherry S, Chess-Williams R, Cheung ZH, Chevet E, Chiang HL, Chiarelli R, Chiba T, Chin LS, Chiou SH, Chisari FV, Cho CH, Cho DH, Choi AM, Choi D, Choi KS, Choi ME, Chouaib S, Choubey D, Choubey V, Chu CT, Chuang TH, Chueh SH, Chun T, Chwae YJ, Chye ML, Ciarcia R, Ciriolo MR, Clague MJ, Clark RS, Clarke PG, Clarke R, Codogno P, Coller HA, Comincini S, Condello M, Condorelli F, Cookson MR, Coombs GH, Coppens I, Corbalan R, Cossart P, Costelli P, Costes S, Coto-Montes A, Couve E, Coxon FP, Cregg JM, Cuervo AM, Cullen JJ, Czaja MJ, D'Amelio M, Darfeuille-Michaud A, Davids LM, Davies FE, De Felici M, de Groot JF, de Haan CA, De Martino L, De Milito A, De Tata V, Debnath J, Degterev A, Dehay B, Delbridge LM, Demarchi F, Deng YZ, Dent P, Denton D, Deretic V, Desai SD, Devenish RJ, Di Gioacchino M, Di Paolo G, Di Pietro C, Diaz-Meco MT, Diaz-Nido J, Dikic I, Dinesh-Kumar SP, Ding WX, Distelhorst CW, Diwan A, Djavaheri-Mergny M, Dokudovskaya S, Dong Z, Dorsey FC, Dosenko V, Dowling JJ, Doxsey S, Drew ME, Duan Q, Duchosal MA, Duff K, Dugail I, Durbeej M, Duszenko M, Edelstein CL, Edinger AL, Egea G, Eichinger L, Eissa NT, Ekmekcioglu S, El-Deiry WS, Elazar Z, Elgendy M, Ellerby LM, Eng KE, Engelbrecht AM, Engelender S, Erenpreisa J, Escalante R, Esclatine A, Eskelinen EL, Espert L, Espina V, Fan H, Fan J, Fan QW, Fan Z, Fang S, Fang Y, Fanto M, Fanzani A, Farkas T, Faure M, Fechheimer M, Feng CG, Feng J, Feng Q, Feng Y, Feuer R, Figueiredo-Pereira ME, Fimia GM, Fingar DC, Finkbeiner S, Finkel T, Finley KD, Fiorito F, Fisher EA, Fisher PB, Flajolet M, Florez-McClure ML, Florio S, Fon EA, Fornai F, Fortunato F, Fotedar R, Fowler DH, Fox HS, Franco R, Frankel LB, Fransen M, Fueyo J, Fujii J, Fujisaki K, Fujita E, Fukuda M, Furukawa RH, Gaestel M, Gailly P, Gajewska M, Galliot B, Galy V, Ganesh S, Ganetzky B, Ganley IG, Gao FB, Gao GF, Gao J, Garcia L, Garcia-Manero G, Garcia-Marcos M, et al. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy. 2012 Apr; 8(4):445-544. PMID: 22966490; PMCID: PMC3404883.
      Citations: 1751     Fields:    Translation:HumansAnimals
    179. Gennarino VA, D'Angelo G, Dharmalingam G, Fernandez S, Russolillo G, Sanges R, Mutarelli M, Belcastro V, Ballabio A, Verde P, Sardiello M, Banfi S. Identification of microRNA-regulated gene networks by expression analysis of target genes. Genome Res. 2012 Jun; 22(6):1163-72. PMID: 22345618; PMCID: PMC3371699.
      Citations: 101     Fields:    Translation:HumansCells
    180. Arteaga-Solis E, Settembre C, Ballabio A, Karsenty G. Sulfatases are determinants of alveolar formation. Matrix Biol. 2012 May; 31(4):253-60. PMID: 22366163; PMCID: PMC3340524.
      Citations: 6     Fields:    Translation:AnimalsCells
    181. Settembre C, Zoncu R, Medina DL, Vetrini F, Erdin S, Erdin S, Huynh T, Ferron M, Karsenty G, Vellard MC, Facchinetti V, Sabatini DM, Ballabio A. A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB. EMBO J. 2012 Mar 07; 31(5):1095-108. PMID: 22343943; PMCID: PMC3298007.
      Citations: 845     Fields:    Translation:HumansAnimalsCells
    182. de Pablo-Latorre R, Saide A, Polishhuck EV, Nusco E, Fraldi A, Ballabio A. Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases. Hum Mol Genet. 2012 Apr 15; 21(8):1770-81. PMID: 22215441; PMCID: PMC3313794.
      Citations: 23     Fields:    Translation:AnimalsCells
    183. Settembre C, Ballabio A. TFEB regulates autophagy: an integrated coordination of cellular degradation and recycling processes. Autophagy. 2011 Nov; 7(11):1379-81. PMID: 21785263.
      Citations: 120     Fields:    Translation:AnimalsCells
    184. Medina DL, Fraldi A, Bouche V, Annunziata F, Mansueto G, Spampanato C, Puri C, Pignata A, Martina JA, Sardiello M, Palmieri M, Polishchuk R, Puertollano R, Ballabio A. Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev Cell. 2011 Sep 13; 21(3):421-30. PMID: 21889421; PMCID: PMC3173716.
      Citations: 308     Fields:    Translation:HumansAnimalsCells
    185. Palmieri M, Impey S, Kang H, di Ronza A, Pelz C, Sardiello M, Ballabio A. Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. Hum Mol Genet. 2011 Oct 01; 20(19):3852-66. PMID: 21752829.
      Citations: 414     Fields:    Translation:HumansCells
    186. Bousquet J, Anto JM, Sterk PJ, Adcock IM, Chung KF, Roca J, Agusti A, Brightling C, Cambon-Thomsen A, Cesario A, Abdelhak S, Antonarakis SE, Avignon A, Ballabio A, Baraldi E, Baranov A, Bieber T, Brahmachari S, Brambilla C, Bringer J, Dauzat M, Ernberg I, Fabbri L, Froguel P, Galas D, Gojobori T, Hunter P, Jorgensen C, Kauffmann F, Kourilsky P, Kowalski ML, Lancet D, Pen CL, Mallet J, Mayosi B, Mercier J, Metspalu A, Nadeau JH, Noble D, Palkonen S, Rabe K, Renard E, Roberts RG, Samolinski B, Simon HU, Soares MB, Superti-Furga G, Tegner J, Verjovski-Almeida S, Wellstead P, Wolkenhauer O, Wouters E, Balling R, Brookes AJ, Charron D, Pison C, Chen Z, Hood L, Auffray C, Bockaert J, Ninot G, Ozt?rk M, Pr?faut C, Sch?nemann HJ. Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome Med. 2011 Jul 06; 3(7):43. PMID: 21745417; PMCID: PMC3221551.
      Citations: 58     Fields:    
    187. Bonaguri C, Melegari A, Ballabio A, Parmeggiani M, Russo A, Battistelli L, Aloe R, Trenti T, Lippi G. Italian multicentre study for application of a diagnostic algorithm in autoantibody testing for autoimmune rheumatic disease: conclusive results. Autoimmun Rev. 2011 Nov; 11(1):1-5. PMID: 21741498.
      Citations: 12     Fields:    Translation:HumansCells
    188. Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A. TFEB links autophagy to lysosomal biogenesis. Science. 2011 Jun 17; 332(6036):1429-33. PMID: 21617040; PMCID: PMC3638014.
      Citations: 1273     Fields:    Translation:HumansAnimalsCells
    189. Spampanato C, De Leonibus E, Dama P, Gargiulo A, Fraldi A, Sorrentino NC, Russo F, Nusco E, Auricchio A, Surace EM, Ballabio A. Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder. Mol Ther. 2011 May; 19(5):860-9. PMID: 21326216; PMCID: PMC3098632.
      Citations: 22     Fields:    Translation:AnimalsCells
    190. Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, De Masi C, Bianchi SA, Cicchini J, Perroud E, Mehmeti S, Dagand E, Schrinner S, Schmidt K, Metz K, Zwingmann C, Brieske N, Springer C, Hernandez AM, Herzog S, Grabbe F, Sieverding C, Fischer B, Schrader K, Brockmeyer M, Dettmer S, Helbig C, Alunni V, Battaini MA, Mura C, Henrichsen CN, Garcia-Lopez R, Echevarria D, Puelles E, Garcia-Calero E, Kruse S, Uhr M, Kauck C, Feng G, Milyaev N, Ong CK, Kumar L, Lam M, Semple CA, Gyenesei A, Mundlos S, Radelof U, Lehrach H, Sarmientos P, Reymond A, Davidson DR, Antonarakis SE, Yaspo ML, Martinez S, Baldock RA, Eichele G, Ballabio A, N?rnberger A, Doll? P. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011 Jan 18; 9(1):e1000582. PMID: 21267068; PMCID: PMC3022534.
      Citations: 329     Fields:    Translation:Animals
    191. Luciani A, Villella VR, Esposito S, Brunetti-Pierri N, Medina DL, Settembre C, Gavina M, Raia V, Ballabio A, Maiuri L. Cystic fibrosis: a disorder with defective autophagy. Autophagy. 2011 Jan; 7(1):104-6. PMID: 21048426.
      Citations: 42     Fields:    Translation:HumansAnimalsCells
    192. Fraldi A, Annunziata F, Lombardi A, Kaiser HJ, Medina DL, Spampanato C, Fedele AO, Polishchuk R, Sorrentino NC, Simons K, Ballabio A. Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders. EMBO J. 2010 Nov 03; 29(21):3607-20. PMID: 20871593; PMCID: PMC2982760.
      Citations: 106     Fields:    Translation:AnimalsCells
    193. Luciani A, Villella VR, Esposito S, Brunetti-Pierri N, Medina D, Settembre C, Gavina M, Pulze L, Giardino I, Pettoello-Mantovani M, D'Apolito M, Guido S, Masliah E, Spencer B, Quaratino S, Raia V, Ballabio A, Maiuri L. Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition. Nat Cell Biol. 2010 Sep; 12(9):863-75. PMID: 20711182.
      Citations: 230     Fields:    Translation:HumansAnimalsCells
    194. De Cegli R, Romito A, Iacobacci S, Mao L, Lauria M, Fedele AO, Klose J, Borel C, Descombes P, Antonarakis SE, di Bernardo D, Banfi S, Ballabio A, Cobellis G. A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes. Genome Biol. 2010; 11(6):R64. PMID: 20569505; PMCID: PMC2911112.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    195. Romito A, Lonardo E, Roma G, Minchiotti G, Ballabio A, Cobellis G. Lack of sik1 in mouse embryonic stem cells impairs cardiomyogenesis by down-regulating the cyclin-dependent kinase inhibitor p57kip2. PLoS One. 2010 Feb 03; 5(2):e9029. PMID: 20140255; PMCID: PMC2815785.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    196. Sardiello M, Ballabio A. Lysosomal enhancement: a CLEAR answer to cellular degradative needs. Cell Cycle. 2009 Dec 15; 8(24):4021-2. PMID: 19949301.
      Citations: 41     Fields:    Translation:HumansAnimalsCells
    197. Bonaguri C, Melegari A, Dall'Aglio P, Ballabio A, Terenziani P, Russo A, Battistelli L, Aloe R, Camisa R, Campaniello G, Sartori E, Monica C. An italian multicenter study for application of a diagnostic algorithm in autoantibody testing. Ann N Y Acad Sci. 2009 Sep; 1173:124-9. PMID: 19758140.
      Citations: 7     Fields:    Translation:HumansCells
    198. Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, Ballabio A. A gene network regulating lysosomal biogenesis and function. Science. 2009 Jul 24; 325(5939):473-7. PMID: 19556463.
      Citations: 1025     Fields:    Translation:HumansAnimalsCells
    199. Settembre C, Arteaga-Solis E, Ballabio A, Karsenty G. Self-eating in skeletal development: implications for lysosomal storage disorders. Autophagy. 2009 Feb; 5(2):228-9. PMID: 19029806; PMCID: PMC3052986.
      Citations: 4     Fields:    Translation:AnimalsCells
    200. Ballabio A. Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders. Int J Clin Pharmacol Ther. 2009; 47 Suppl 1:S34-8. PMID: 20040309.
      Citations: 18     Fields:    Translation:HumansAnimals
    201. Gennarino VA, Sardiello M, Avellino R, Meola N, Maselli V, Anand S, Cutillo L, Ballabio A, Banfi S. MicroRNA target prediction by expression analysis of host genes. Genome Res. 2009 Mar; 19(3):481-90. PMID: 19088304; PMCID: PMC2661810.
      Citations: 98     Fields:    Translation:HumansCells
    202. Ballabio A, Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochim Biophys Acta. 2009 Apr; 1793(4):684-96. PMID: 19111581.
      Citations: 221     Fields:    Translation:HumansAnimalsCells
    203. Ballabio A, Antonarakis S. Welcome to PathoGenetics. Pathogenetics. 2008 Nov 03; 1(1):1. PMID: 19014665; PMCID: PMC2580038.
      Citations:    
    204. Settembre C, Arteaga-Solis E, McKee MD, de Pablo R, Al Awqati Q, Ballabio A, Karsenty G. Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification. Genes Dev. 2008 Oct 01; 22(19):2645-50. PMID: 18832069; PMCID: PMC2559909.
      Citations: 39     Fields:    Translation:AnimalsCells
    205. Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, Venturi C, Sviderskaya EV, Piccirillo R, Coppola M, Marigo V, Incerti B, Ballabio A, Surace EM, Tacchetti C, Bennett DC, Schiaffino MV. The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet. 2008 Nov 15; 17(22):3487-501. PMID: 18697795; PMCID: PMC2572695.
      Citations: 37     Fields:    Translation:HumansAnimalsCells
    206. Sardiello M, Cairo S, Fontanella B, Ballabio A, Meroni G. Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties. BMC Evol Biol. 2008 Aug 01; 8:225. PMID: 18673550; PMCID: PMC2533329.
      Citations: 108     Fields:    Translation:HumansAnimalsCells
    207. Fraldi A, Zito E, Annunziata F, Lombardi A, Cozzolino M, Monti M, Spampanato C, Ballabio A, Pucci P, Sitia R, Cosma MP. Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. Hum Mol Genet. 2008 Sep 01; 17(17):2610-21. PMID: 18508857.
      Citations: 27     Fields:    Translation:HumansCells
    208. Pepe S, Kurul SH, Ballabio A, Cosma MP, Dirik E, Yis U. Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. Brain Dev. 2008 May; 30(5):374-7. PMID: 18509892.
      Citations: 5     Fields:    Translation:Humans
    209. Klionsky DJ, Abeliovich H, Agostinis P, Agrawal DK, Aliev G, Askew DS, Baba M, Baehrecke EH, Bahr BA, Ballabio A, Bamber BA, Bassham DC, Bergamini E, Bi X, Biard-Piechaczyk M, Blum JS, Bredesen DE, Brodsky JL, Brumell JH, Brunk UT, Bursch W, Camougrand N, Cebollero E, Cecconi F, Chen Y, Chin LS, Choi A, Chu CT, Chung J, Clarke PG, Clark RS, Clarke SG, Cleveland JL, Codogno P, Coto-Montes A, Cregg JM, Cuervo AM, Debnath J, Demarchi F, Dennis PB, Dennis PA, Deretic V, Devenish RJ, Di Sano F, Dice JF, Difiglia M, Dinesh-Kumar S, Distelhorst CW, Djavaheri-Mergny M, Dorsey FC, Dron M, Dunn WA, Duszenko M, Eissa NT, Elazar Z, Esclatine A, Eskelinen EL, Finley KD, Fueyo J, Fujisaki K, Galliot B, Gao FB, Gewirtz DA, Gibson SB, Gohla A, Goldberg AL, Gonzalez R, Gorski S, Gottlieb RA, He YW, Heidenreich K, Hill JA, Hu X, Huang WP, Iwasaki A, Jackson WT, Jiang X, Jin S, Johansen T, Jung JU, Kadowaki M, Kang C, Kelekar A, Kessel DH, Kiel JA, Kim HP, Kimchi A, Kinsella TJ, Kiselyov K, Kitamoto K, Knecht E, Komatsu M, Kominami E, Kondo S, Kroemer G, Kuan CY, Kumar R, Kundu M, Landry J, Laporte M, Le W, Lei HY, Lenardo MJ, Levine B, Lieberman A, Lim KL, Lin FC, Liou W, Liu LF, Lopez-Berestein G, Lu B, Macleod KF, Malorni W, Martinet W, Matsuoka K, Mautner J, Meijer AJ, Michels P, Miotto G, Mistiaen WP, Mizushima N, Mograbi B, Monastyrska I, Moore MN, Moreira PI, Moriyasu Y, Motyl T, Murphy LO, Naqvi NI, Neufeld TP, Nishino I, Nixon RA, Noda T, Ogawa M, Oleinick NL, Olsen LJ, Ozpolat B, Paglin S, Palmer GE, Papassideri I, Parkes M, Perlmutter DH, Perry G, Piacentini M, Pinkas-Kramarski R, Prescott M, Proikas-Cezanne T, Raben N, Rami A, Reggiori F, Rubinsztein DC, Ryan KM, Sadoshima J, Sakagami H, Sakai Y, Sandri M, Sasakawa C, Schneider C, Seglen PO, Seleverstov O, Settleman J, Shacka JJ, Shapiro IM, Sibirny A, Silva-Zacarin EC, Simon HU, Simone C, Simonsen A, Smith MA, Spanel-Borowski K, Srinivas V, Steeves M, Stenmark H, Stromhaug PE, Subauste CS, Sugimoto S, Sulzer D, Suzuki T, Swanson MS, Tabas I, Takeshita F, Talbot NJ, Tanaka K, Tanaka K, Tanida I, Taylor GS, Taylor JP, Terman A, Tettamanti G, Thompson CB, Thumm M, Tolkovsky AM, Tooze SA, Truant R, Tumanovska LV, Uchiyama Y, Ueno T, van der Klei I, Vaquero EC, Vellai T, Vogel MW, Wang HG, Webster P, Wiley JW, Xi Z, Xiao G, Yahalom J, Yang JM, Yap G, Yin XM, Yoshimori T, Yu L, Yue Z, Yuzaki M, Zabirnyk O, Zheng X, Zhu X, Deter RL, Clav? C, Colombo MI, Dr?ge W, F?s?s L, Fuentes JM, Gonz?lez-Est?vez C, H?ussinger D, H?yer-Hansen M, J??ttel? M, Kov?cs AL, L?pez-Ot?n C, Mel?ndez A, M?nz C, N?rnberg B, Rohrer B, Sass M, Tall?czy Z, Uzc?tegui NL. Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy. 2008 Feb; 4(2):151-75. PMID: 18188003; PMCID: PMC2654259.
      Citations: 1171     Fields:    Translation:HumansAnimalsCells
    210. Settembre C, Fraldi A, Rubinsztein DC, Ballabio A. Lysosomal storage diseases as disorders of autophagy. Autophagy. 2008 Jan; 4(1):113-4. PMID: 18000397.
      Citations: 79     Fields:    Translation:HumansAnimalsCells
    211. Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, de Pablo R, Tacchetti C, Rubinsztein DC, Ballabio A. A block of autophagy in lysosomal storage disorders. Hum Mol Genet. 2008 Jan 01; 17(1):119-29. PMID: 17913701.
      Citations: 245     Fields:    Translation:HumansAnimalsCells
    212. Annunziata I, Lombardi A, Settembre C, Ballabio A, Bouch? V. Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. Hum Mutat. 2007 Sep; 28(9):928. PMID: 17657823.
      Citations: 16     Fields:    Translation:HumansAnimalsCells
    213. Capotondo A, Cesani M, Pepe S, Fasano S, Gregori S, Tononi L, Venneri MA, Brambilla R, Quattrini A, Ballabio A, Cosma MP, Naldini L, Biffi A. Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy. Hum Gene Ther. 2007 Sep; 18(9):821-36. PMID: 17845130.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    214. Fraldi A, Hemsley K, Crawley A, Lombardi A, Lau A, Sutherland L, Auricchio A, Ballabio A, Hopwood JJ. Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Hum Mol Genet. 2007 Nov 15; 16(22):2693-702. PMID: 17725987.
      Citations: 53     Fields:    Translation:HumansAnimalsCells
    215. Roma C, Ferrante P, Guardiola O, Ballabio A, Zollo M. New mutations identified in the ocular albinism type 1 gene. Gene. 2007 Nov 01; 402(1-2):20-7. PMID: 17822861.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    216. Fedele AO, Filocamo M, Di Rocco M, Sersale G, di Natale P, Cosma MP, Ballabio A, L?bke T. Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. Hum Mutat. 2007 May; 28(5):523. PMID: 17397050.
      Citations: 12     Fields:    Translation:Humans
    217. Zito E, Buono M, Pepe S, Settembre C, Annunziata I, Surace EM, Dierks T, Monti M, Cozzolino M, Pucci P, Ballabio A, Cosma MP. Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. EMBO J. 2007 May 16; 26(10):2443-53. PMID: 17446859; PMCID: PMC1868907.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    218. Fraldi A, Biffi A, Lombardi A, Visigalli I, Pepe S, Settembre C, Nusco E, Auricchio A, Naldini L, Ballabio A, Cosma MP. SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. Biochem J. 2007 Apr 15; 403(2):305-12. PMID: 17206939; PMCID: PMC1874239.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    219. Sperandeo MP, Annunziata P, Bozzato A, Piccolo P, Maiuri L, D'Armiento M, Ballabio A, Corso G, Andria G, Borsani G, Sebastio G. Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. Am J Physiol Cell Physiol. 2007 Jul; 293(1):C191-8. PMID: 17376816.
      Citations: 17     Fields:    Translation:AnimalsCells
    220. Settembre C, Annunziata I, Spampanato C, Zarcone D, Cobellis G, Nusco E, Zito E, Tacchetti C, Cosma MP, Ballabio A. Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Proc Natl Acad Sci U S A. 2007 Mar 13; 104(11):4506-11. PMID: 17360554; PMCID: PMC1810506.
      Citations: 44     Fields:    Translation:AnimalsCells
    221. Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M, Zampino G. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat. 2007 Mar; 28(3):265-72. PMID: 17054105.
      Citations: 42     Fields:    Translation:Humans
    222. Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. Am J Hum Genet. 2007 Apr; 80(4):751-8. PMID: 17357080; PMCID: PMC1852717.
      Citations: 36     Fields:    Translation:HumansCells
    223. Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G. Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther. 2007 Mar; 15(3):508-14. PMID: 17213836.
      Citations: 42     Fields:    Translation:HumansCells
    224. Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet. 2006 Nov; 79(5):878-89. PMID: 17033964; PMCID: PMC1698567.
      Citations: 40     Fields:    Translation:HumansAnimalsCells
    225. Ballabio A, Nelson D, Rozen S. Genetics of disease The sex chromosomes and human disease. Curr Opin Genet Dev. 2006 Jun; 16(3):209-12. PMID: 16650757.
      Citations: 1     Fields:    Translation:HumansCells
    226. Franco B, Ballabio A. X-inactivation and human disease: X-linked dominant male-lethal disorders. Curr Opin Genet Dev. 2006 Jun; 16(3):254-9. PMID: 16650755.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    227. Vetrini F, Tammaro R, Bondanza S, Surace EM, Auricchio A, De Luca M, Ballabio A, Marigo V. Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. Hum Mutat. 2006 May; 27(5):420-6. PMID: 16550551.
      Citations: 17     Fields:    Translation:HumansCells
    228. Hagens O, Ballabio A, Kalscheuer V, Kraehenbuhl JP, Schiaffino MV, Smith P, Staub O, Hildebrand J, Wallingford JB. A new standard nomenclature for proteins related to Apx and Shroom. BMC Cell Biol. 2006 Apr 14; 7:18. PMID: 16615870; PMCID: PMC1481537.
      Citations: 14     Fields:    Translation:HumansAnimals
    229. Cardone M, Polito VA, Pepe S, Mann L, D'Azzo A, Auricchio A, Ballabio A, Cosma MP. Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Hum Mol Genet. 2006 Apr 01; 15(7):1225-36. PMID: 16505002.
      Citations: 55     Fields:    Translation:HumansAnimalsCells
    230. Cortese K, Giordano F, Surace EM, Venturi C, Ballabio A, Tacchetti C, Marigo V. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Invest Ophthalmol Vis Sci. 2005 Dec; 46(12):4358-64. PMID: 16303920.
      Citations: 24     Fields:    Translation:AnimalsCells
    231. Surace EM, Domenici L, Cortese K, Cotugno G, Di Vicino U, Venturi C, Cellerino A, Marigo V, Tacchetti C, Ballabio A, Auricchio A. Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. Mol Ther. 2005 Oct; 12(4):652-8. PMID: 16023414.
      Citations: 14     Fields:    Translation:AnimalsCells
    232. Sardiello M, Annunziata I, Roma G, Ballabio A. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Hum Mol Genet. 2005 Nov 01; 14(21):3203-17. PMID: 16174644.
      Citations: 67     Fields:    Translation:HumansCells
    233. Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, Ogata T, Raas-Rothschild A, de Blois MC, Wilson LC, Zaidman G, Zuffardi O, Ballabio A, Franco B. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. Am J Med Genet A. 2005 Aug 30; 137(2):190-8. PMID: 16059943.
      Citations: 13     Fields:    Translation:HumansCells
    234. Bulfone A, Carotenuto P, Faedo A, Aglio V, Garzia L, Bello AM, Basile A, Cocchia M, Guardiola O, Ballabio A, Rubenstein JL, Zollo M, Andr? A. Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes. J Neurosci. 2005 Aug 17; 25(33):7586-600. PMID: 16107646; PMCID: PMC6725394.
      Citations: 4     Fields:    Translation:AnimalsCells
    235. Zito E, Fraldi A, Pepe S, Annunziata I, Kobinger G, Di Natale P, Ballabio A, Cosma MP. Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2. EMBO Rep. 2005 Jul; 6(7):655-60. PMID: 15962010; PMCID: PMC1369113.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    236. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR, Gl?ckner G, M?ller I, Rosenthal A. The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37. PMID: 15772651; PMCID: PMC2665286.
      Citations: 433     Fields:    Translation:HumansAnimalsCells
    237. Cobellis G, Nicolaus G, Iovino M, Romito A, Marra E, Barbarisi M, Sardiello M, Di Giorgio FP, Iovino N, Zollo M, Ballabio A, Cortese R. Tagging genes with cassette-exchange sites. Nucleic Acids Res. 2005 Mar 01; 33(4):e44. PMID: 15741177; PMCID: PMC552971.
      Citations: 11     Fields:    Translation:AnimalsCells
    238. Diez-Roux G, Ballabio A. Sulfatases and human disease. Annu Rev Genomics Hum Genet. 2005; 6:355-79. PMID: 16124866.
      Citations: 67     Fields:    Translation:HumansAnimalsCells
    239. Boccia A, Petrillo M, di Bernardo D, Guffanti A, Mignone F, Confalonieri S, Luzi L, Pesole G, Paolella G, Ballabio A, Banfi S. DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes. Nucleic Acids Res. 2005 Jan 01; 33(Database issue):D505-10. PMID: 15608249; PMCID: PMC539965.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    240. Auwerx J, Avner P, Baldock R, Ballabio A, Balling R, Barbacid M, Berns A, Bradley A, Brown S, Carmeliet P, Chambon P, Cox R, Davidson D, Davies K, Duboule D, Forejt J, Granucci F, Hastie N, Jackson I, Kioussis D, Kollias G, Lathrop M, Lendahl U, Malumbres M, von Melchner H, Partanen J, Ricciardi-Castagnoli P, Rigby P, Rosen B, Rosenthal N, Skarnes B, Stewart AF, Thornton J, Tocchini-Valentini G, Wagner E, Wahli W, Wurst W, de Angelis MH, M?ller W. The European dimension for the mouse genome mutagenesis program. Nat Genet. 2004 Sep; 36(9):925-7. PMID: 15340424; PMCID: PMC2716028.
      Citations: 67     Fields:    Translation:Animals
    241. Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, Marigo V. The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. Mol Cell Biol. 2004 Aug; 24(15):6550-9. PMID: 15254223; PMCID: PMC444869.
      Citations: 26     Fields:    Translation:AnimalsCells
    242. Ferrante P, Messali S, Ballabio A, Meroni G. Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. Gene. 2004 Jul 21; 336(2):155-61. PMID: 15246527.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    243. Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat. 2004 Jun; 23(6):576-81. PMID: 15146462.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    244. Monti E, Bassi MT, Bresciani R, Civini S, Croci GL, Papini N, Riboni M, Zanchetti G, Ballabio A, Preti A, Tettamanti G, Venerando B, Borsani G. Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family. Genomics. 2004 Mar; 83(3):445-53. PMID: 14962670.
      Citations: 39     Fields:    Translation:HumansAnimalsCells
    245. Ferreirinha F, Quattrini A, Pirozzi M, Valsecchi V, Dina G, Broccoli V, Auricchio A, Piemonte F, Tozzi G, Gaeta L, Casari G, Ballabio A, Rugarli EI. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest. 2004 Jan; 113(2):231-42. PMID: 14722615; PMCID: PMC311437.
      Citations: 117     Fields:    Translation:AnimalsCells
    246. Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol. 2003 Nov 24; 163(4):777-87. PMID: 14623864; PMCID: PMC2173682.
      Citations: 103     Fields:    Translation:HumansAnimalsCells
    247. De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G, Rodr?guez Criado G. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A. 2003 Jul 15; 120A(2):222-8. PMID: 12833403.
      Citations: 34     Fields:    Translation:HumansCells
    248. Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A. The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell. 2003 May 16; 113(4):445-56. PMID: 12757706.
      Citations: 125     Fields:    Translation:HumansAnimalsCells
    249. Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. Am J Med Genet A. 2003 Mar 01; 117A(2):164-8. PMID: 12567415.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    250. Marconi R, De Fusco M, Aridon P, Plewnia K, Rossi M, Carapelli S, Ballabio A, Morgante L, Musolino R, Epifanio A, Micieli G, De Michele G, Casari G. Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. Ann Neurol. 2003 Mar; 53(3):376-81. PMID: 12601705.
      Citations: 20     Fields:    Translation:HumansCells
    251. Angeletti B, Auricchio A, Gekeler F, Shinoda K, Ballabio A, Graw J, Marigo V, L?ster J. An in vivo doxycycline-controlled expression system for functional studies of the retina. Invest Ophthalmol Vis Sci. 2003 Feb; 44(2):755-60. PMID: 12556410.
      Citations: 4     Fields:    Translation:AnimalsCells
    252. De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet. 2003 Feb; 33(2):192-6. PMID: 12539047.
      Citations: 257     Fields:    Translation:HumansAnimalsCells
    253. Reymond A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE, Ballabio A. Human chromosome 21 gene expression atlas in the mouse. Nature. 2002 Dec 05; 420(6915):582-6. PMID: 12466854.
      Citations: 77     Fields:    Translation:HumansAnimalsCells
    254. Schiaffino MV, Dellambra E, Cortese K, Baschirotto C, Bondanza S, Clementi M, Nucci P, Ballabio A, Tacchetti C, De Luca M. Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes. Hum Gene Ther. 2002 May 20; 13(8):947-57. PMID: 12031127.
      Citations: 4     Fields:    Translation:HumansCells
    255. Rugarli EI, Di Schiavi E, Hilliard MA, Arbucci S, Ghezzi C, Facciolli A, Coppola G, Ballabio A, Bazzicalupo P. The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching. Development. 2002 Mar; 129(5):1283-94. PMID: 11874923.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    256. Bulfone A, Pentimalli F, Fedele M, Iuliano R, Santoro M, Chiariotti L, Ballabio A, Fusco A, Pierantoni GM. The homeodomain-interacting protein kinase 2 gene is expressed late in embryogenesis and preferentially in retina, muscle, and neural tissues. Biochem Biophys Res Commun. 2002 Jan 25; 290(3):942-7. PMID: 11798164.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    257. Errico A, Ballabio A, Rugarli EI. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet. 2002 Jan 15; 11(2):153-63. PMID: 11809724.
      Citations: 118     Fields:    Translation:HumansAnimalsCells
    258. den Hollander AI, Ghiani M, de Kok YJ, Wijnholds J, Ballabio A, Cremers FP, Broccoli V. Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain. Mech Dev. 2002 Jan; 110(1-2):203-7. PMID: 11744384.
      Citations: 44     Fields:    Translation:HumansAnimalsCells
    259. Kayserili H, Cox TC, Cox LL, Basaran S, Ballabio A, Kili? G, Y?ksel-Apak M. Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). J Med Genet. 2001 Jun; 38(6):411-7. PMID: 11424926; PMCID: PMC1734893.
      Citations: 5     Fields:    Translation:HumansCells
    260. Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, Riganelli D, Zanaria E, Messali S, Cainarca S, Guffanti A, Minucci S, Pelicci PG, Ballabio A. The tripartite motif family identifies cell compartments. EMBO J. 2001 May 01; 20(9):2140-51. PMID: 11331580; PMCID: PMC125245.
      Citations: 623     Fields:    Translation:HumansAnimalsCells
    261. Ahmad W, Noci S, Faiyaz ul Haque M, Sarno T, Aridon P, Ahmad MM, Amin-Ud-Din M, Rafiq MA, ul Haque S, De Fusco M, Ballabio A, Franco B, Casari G. Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. Am J Med Genet. 2001 Apr 15; 100(1):62-5. PMID: 11337751.
      Citations:    Fields:    Translation:HumansCells
    262. Cairo S, Merla G, Urbinati F, Ballabio A, Reymond A. WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. Hum Mol Genet. 2001 Mar 15; 10(6):617-27. PMID: 11230181.
      Citations: 42     Fields:    Translation:HumansAnimalsCells
    263. Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Zorzano A, Bertran J, International Cystinuria Consortium, Font MA, Feliubadal? L, Fern?ndez E, Palac?n M. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet. 2001 Feb 15; 10(4):305-16. PMID: 11157794.
      Citations: 36     Fields:    Translation:HumansCells
    264. Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, Franco B. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet. 2001 Mar; 68(3):569-76. PMID: 11179005; PMCID: PMC1274470.
      Citations: 120     Fields:    Translation:HumansCells
    265. d'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, Clementi M, De Luca M, Ballabio A, Schiaffino MV. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. Hum Mol Genet. 2000 Dec 12; 9(20):3011-8. PMID: 11115845.
      Citations: 40     Fields:    Translation:HumansAnimalsCells
    266. Angeletti B, Ballabio A, Marigo V, Surace EM. Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. Invest Ophthalmol Vis Sci. 2000 Dec; 41(13):4333-7. PMID: 11095635.
      Citations: 14     Fields:    Translation:AnimalsCells
    267. Gambardella A, Annesi G, De Fusco M, Patrignani A, Aguglia U, Annesi F, Pasqua AA, Spadafora P, Oliveri RL, Valentino P, Zappia M, Ballabio A, Casari G, Quattrone A. A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. Neurology. 2000 Nov 28; 55(10):1467-71. PMID: 11094099.
      Citations: 15     Fields:    Translation:HumansCells
    268. Incerti B, Cortese K, Pizzigoni A, Surace EM, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett DC, Marigo V, Schiaffino MV, Tacchetti C, Ballabio A. Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. Hum Mol Genet. 2000 Nov 22; 9(19):2781-8. PMID: 11092754.
      Citations: 33     Fields:    Translation:HumansAnimalsCells
    269. Buchner G, Broccoli V, Bulfone A, Orfanelli U, Gattuso C, Ballabio A, Franco B. MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives. Mech Dev. 2000 Nov; 98(1-2):179-82. PMID: 11044626.
      Citations: 10     Fields:    Translation:AnimalsCells
    270. De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet. 2000 Nov; 26(3):275-6. PMID: 11062464.
      Citations: 92     Fields:    Translation:HumansAnimalsCells
    271. Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G. Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet. 2000 Nov; 67(5):1110-20. PMID: 11013137; PMCID: PMC1288553.
      Citations: 120     Fields:    Translation:HumansAnimalsCells
    272. Fukami M, Kirsch S, Schiller S, Richter A, Benes V, Franco B, Muroya K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T, Rappold GA. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet. 2000 Sep; 67(3):563-73. PMID: 10903929; PMCID: PMC1287516.
      Citations: 24     Fields:    Translation:HumansCells
    273. Meroni G, Cairo S, Merla G, Messali S, Brent R, Ballabio A, Reymond A. Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? Oncogene. 2000 Jul 06; 19(29):3266-77. PMID: 10918583.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    274. Monti E, Bassi MT, Papini N, Riboni M, Manzoni M, Venerando B, Croci G, Preti A, Ballabio A, Tettamanti G, Borsani G. Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane. Biochem J. 2000 Jul 01; 349(Pt 1):343-51. PMID: 10861246; PMCID: PMC1221155.
      Citations: 50     Fields:    Translation:HumansAnimalsCells
    275. Bulfone A, Menguzzato E, Broccoli V, Marchitiello A, Gattuso C, Mariani M, Consalez GG, Martinez S, Ballabio A, Banfi S. Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. Hum Mol Genet. 2000 May 22; 9(9):1443-52. PMID: 10814725.
      Citations: 33     Fields:    Translation:HumansAnimalsCells
    276. Buchner G, Orfanelli U, Quaderi N, Bassi MT, Andolfi G, Ballabio A, Franco B. Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. Genomics. 2000 Apr 01; 65(1):16-23. PMID: 10777661.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    277. Sperandeo MP, Bassi MT, Riboni M, Parenti G, Buoninconti A, Manzoni M, Incerti B, Larocca MR, Di Rocco M, Strisciuglio P, Dianzani I, Parini R, Candito M, Endo F, Ballabio A, Andria G, Sebastio G, Borsani G. Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am J Hum Genet. 2000 Jan; 66(1):92-9. PMID: 10631139; PMCID: PMC1288352.
      Citations: 20     Fields:    Translation:Humans
    278. Reymond A, Volorio S, Merla G, Al-Maghtheh M, Zuffardi O, Bulfone A, Ballabio A, Zollo M. Evidence for interaction between human PRUNE and nm23-H1 NDPKinase. Oncogene. 1999 Dec 02; 18(51):7244-52. PMID: 10602478.
      Citations: 36     Fields:    Translation:HumansAnimalsCells
    279. Bassi MT, Sperandeo MP, Incerti B, Bulfone A, Pepe A, Surace EM, Gattuso C, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Andria G, Ballabio A, Borsani G, Sebastio G. SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. Genomics. 1999 Dec 01; 62(2):297-303. PMID: 10610726.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    280. Monti E, Preti A, Nesti C, Ballabio A, Borsani G. Expression of a novel human sialidase encoded by the NEU2 gene. Glycobiology. 1999 Dec; 9(12):1313-21. PMID: 10561456.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    281. Buchner G, Bassi MT, Andolfi G, Ballabio A, Franco B. Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 region. Genomics. 1999 Nov 15; 62(1):113-8. PMID: 10585778.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    282. Ahmad W, De Fusco M, Faiyaz ul Haque M, Aridon P, Sarno T, Sohail M, ul Haque S, Ahmad M, Ballabio A, Franco B, Casari G. Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity. Eur J Hum Genet. 1999 Oct-Nov; 7(7):828-32. PMID: 10573017.
      Citations: 1     Fields:    Translation:HumansCells
    283. Barbieri AM, Lupo G, Bulfone A, Andreazzoli M, Mariani M, Fougerousse F, Consalez GG, Borsani G, Beckmann JS, Barsacchi G, Ballabio A, Banfi S. A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis. Proc Natl Acad Sci U S A. 1999 Sep 14; 96(19):10729-34. PMID: 10485894; PMCID: PMC17951.
      Citations: 52     Fields:    Translation:HumansAnimalsCells
    284. Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, International Cystinuria Consortium, Feliubadal? L, Fern?ndez E, Est?vez R, Palac?n M. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet. 1999 Sep; 23(1):52-7. PMID: 10471498.
      Citations: 88     Fields:    Translation:HumansAnimalsCells
    285. Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A. Ocular albinism: evidence for a defect in an intracellular signal transduction system. Nat Genet. 1999 Sep; 23(1):108-12. PMID: 10471510.
      Citations: 55     Fields:    Translation:HumansAnimalsCells
    286. Cainarca S, Messali S, Ballabio A, Meroni G. Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. Hum Mol Genet. 1999 Aug; 8(8):1387-96. PMID: 10400985.
      Citations: 32     Fields:    Translation:HumansAnimalsCells
    287. Buchner G, Montini E, Andolfi G, Quaderi N, Cainarca S, Messali S, Bassi MT, Ballabio A, Meroni G, Franco B. MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. Hum Mol Genet. 1999 Aug; 8(8):1397-407. PMID: 10400986.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    288. Banfi S, Bassi MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, Casari G, Franco B. Identification and characterization of AFG3L2, a novel paraplegin-related gene. Genomics. 1999 Jul 01; 59(1):51-8. PMID: 10395799.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    289. Prakash SK, Van den Veyver IB, Franco B, Volta M, Ballabio A, Zoghbi HY. Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 1999 Jul 01; 59(1):77-84. PMID: 10395802.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    290. Bulfone A, Martinez S, Marigo V, Campanella M, Basile A, Quaderi N, Gattuso C, Rubenstein JL, Ballabio A. Expression pattern of the Tbr2 (Eomesodermin) gene during mouse and chick brain development. Mech Dev. 1999 Jun; 84(1-2):133-8. PMID: 10473127.
      Citations: 65     Fields:    Translation:AnimalsCells
    291. Bassi MT, Ramesar RS, Caciotti B, Winship IM, De Grandi A, Riboni M, Townes PL, Beighton P, Ballabio A, Borsani G. X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. Am J Hum Genet. 1999 Jun; 64(6):1604-16. PMID: 10330347; PMCID: PMC1377903.
      Citations: 34     Fields:    Translation:HumansCells
    292. Scolari F, Puzzer D, Amoroso A, Caridi G, Ghiggeri GM, Maiorca R, Aridon P, De Fusco M, Ballabio A, Casari G. Identification of a new locus for medullary cystic disease, on chromosome 16p12. Am J Hum Genet. 1999 Jun; 64(6):1655-60. PMID: 10330352; PMCID: PMC1377908.
      Citations: 15     Fields:    Translation:HumansCells
    293. Montini E, Buchner G, Spalluto C, Andolfi G, Caruso A, den Dunnen JT, Trump D, Rocchi M, Ballabio A, Franco B. Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22. Genomics. 1999 May 15; 58(1):65-72. PMID: 10331946.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    294. Auricchio A, Griseri P, Carpentieri ML, Betsos N, Staiano A, Tozzi A, Priolo M, Thompson H, Bocciardi R, Romeo G, Ballabio A, Ceccherini I. Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet. 1999 Apr; 64(4):1216-21. PMID: 10090908; PMCID: PMC1377847.
      Citations: 29     Fields:    Translation:HumansCells
    295. Monti E, Preti A, Rossi E, Ballabio A, Borsani G. Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases. Genomics. 1999 Apr 01; 57(1):137-43. PMID: 10191093.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    296. Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, Aridon P, Ballabio A, Carrozzo R, Casari G. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol. 1999 Mar; 45(3):344-52. PMID: 10072049.
      Citations: 31     Fields:    Translation:HumansCells
    297. Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, Manzoni M, Incerti B, Pepe A, Andria G, Ballabio A, Sebastio G. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999 Mar; 21(3):297-301. PMID: 10080183.
      Citations: 62     Fields:    Translation:HumansCells
    298. Fogli A, Guerrini R, Moro F, Fernandez-Alvarez E, Livet MO, Renieri A, Cioni M, Pilz DT, Veggiotti P, Rossi E, Ballabio A, Carrozzo R. Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. Ann Neurol. 1999 Feb; 45(2):154-61. PMID: 9989616.
      Citations: 11     Fields:    Translation:HumansCells
    299. Lavorgna G, Guffanti A, Borsani G, Ballabio A, Boncinelli E. TargetFinder: searching annotated sequence databases for target genes of transcription factors. Bioinformatics. 1999 Feb; 15(2):172-3. PMID: 10089203.
      Citations: 11     Fields:    Translation:Cells
    300. DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V, Hanson I, Borsani G. EYA4, a novel vertebrate gene related to Drosophila eyes absent. Hum Mol Genet. 1999 Jan; 8(1):11-23. PMID: 9887327.
      Citations: 49     Fields:    Translation:HumansAnimalsCells
    301. Piccini M, Casari G, Zhou J, Bruttini M, Volti SL, Ballabio A, Renieri A. Evidence for genetic heterogeneity in benign familial hematuria. Am J Nephrol. 1999; 19(4):464-7. PMID: 10460935.
      Citations: 4     Fields:    Translation:Humans
    302. Volta M, Bulfone A, Gattuso C, Rossi E, Mariani M, Consalez GG, Zuffardi O, Ballabio A, Banfi S, Franco B. Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. Genomics. 1999 Jan 01; 55(1):68-77. PMID: 9889000.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    303. Segal Y, Peissel B, Renieri A, de Marchi M, Ballabio A, Pei Y, Zhou J. LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. Am J Hum Genet. 1999 Jan; 64(1):62-9. PMID: 9915944; PMCID: PMC1377703.
      Citations: 29     Fields:    Translation:HumansCells
    304. Bulfone A, Gattuso C, Marchitiello A, Pardini C, Boncinelli E, Borsani G, Banfi S, Ballabio A. The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function. Hum Mol Genet. 1998 Dec; 7(13):1997-2006. PMID: 9817915.
      Citations: 1     Fields:    Translation:Animals
    305. Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M. Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. Am J Hum Genet. 1998 Sep; 63(3):703-10. PMID: 9718340; PMCID: PMC1377398.
      Citations: 18     Fields:    Translation:HumansCells
    306. Montini E, Andolfi G, Caruso A, Buchner G, Walpole SM, Mariani M, Consalez G, Trump D, Ballabio A, Franco B. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics. 1998 Aug 01; 51(3):427-33. PMID: 9721213.
      Citations: 52     Fields:    Translation:HumansAnimalsCells
    307. de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S. Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics. 1998 Jul 15; 51(2):243-50. PMID: 9722947.
      Citations: 21     Fields:    Translation:HumansCells
    308. Cox TC, Cox LL, Ballabio A. A very high density microsatellite map (1 STR/41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region. Eur J Hum Genet. 1998 Jul-Aug; 6(4):406-12. PMID: 9781050.
      Citations: 1     Fields:    Translation:HumansCells
    309. De Michele G, De Fusco M, Cavalcanti F, Filla A, Marconi R, Volpe G, Monticelli A, Ballabio A, Casari G, Cocozza S. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet. 1998 Jul; 63(1):135-9. PMID: 9634528; PMCID: PMC1377251.
      Citations: 29     Fields:    Translation:HumansCells
    310. Petrella A, Doti I, Agosti V, Giarrusso PC, Vitale D, Bond HM, Cuomo C, Tassone P, Franco B, Ballabio A, Venuta S, Morrone G. A 5' regulatory sequence containing two Ets motifs controls the expression of the Wiskott-Aldrich syndrome protein (WASP) gene in human hematopoietic cells. Blood. 1998 Jun 15; 91(12):4554-60. PMID: 9616151.
      Citations: 12     Fields:    Translation:HumansCells
    311. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Fontaine B, Ballabio A, D?rr A. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 1998 Jun 12; 93(6):973-83. PMID: 9635427.
      Citations: 246     Fields:    Translation:HumansAnimalsCells
    312. Lo Nigro C, Venesio T, Reymond A, Meroni G, Alberici P, Cainarca S, Enrico F, Stack M, Ledbetter DH, Liscia DS, Ballabio A, Carrozzo R. The human ROX gene: genomic structure and mutation analysis in human breast tumors. Genomics. 1998 Apr 15; 49(2):275-82. PMID: 9598315.
      Citations: 6     Fields:    Translation:HumansCells
    313. Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM, Bruttini M, Piccini M, Vitelli F, Ballabio A, Pober BR. Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? J Med Genet. 1998 Apr; 35(4):273-8. PMID: 9598718; PMCID: PMC1051272.
      Citations: 14     Fields:    Translation:HumansCells
    314. Puca AA, Nigro V, Piluso G, Belsito A, Sampaolo S, Quaderi N, Rossi E, Di Iorio G, Ballabio A, Franco B. Identification and characterization of a novel member of the dystrobrevin gene family. FEBS Lett. 1998 Mar 20; 425(1):7-13. PMID: 9540997.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    315. Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. Am J Hum Genet. 1998 Mar; 62(3):562-72. PMID: 9497243; PMCID: PMC1376941.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    316. Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A, Toniolo D. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet. 1998 Mar; 62(3):533-41. PMID: 9497258; PMCID: PMC1376955.
      Citations: 61     Fields:    Translation:HumansAnimalsCells
    317. Dal Zotto L, Quaderi NA, Elliott R, Lingerfelter PA, Carrel L, Valsecchi V, Montini E, Yen CH, Chapman V, Kalcheva I, Arrigo G, Zuffardi O, Thomas S, Willard HF, Ballabio A, Disteche CM, Rugarli EI. The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. Hum Mol Genet. 1998 Mar; 7(3):489-99. PMID: 9467009.
      Citations: 36     Fields:    Translation:HumansAnimalsCells
    318. Piccini M, Vitelli F, Bruttini M, Pober BR, Jonsson JJ, Villanova M, Zollo M, Borsani G, Ballabio A, Renieri A. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. Genomics. 1998 Feb 01; 47(3):350-8. PMID: 9480748.
      Citations: 30     Fields:    Translation:HumansCells
    319. Lestingi M, Luddi A, Orlandini M, Franco B, Rossi E, Ballabio A, Zuffardi O, Oliviero S, Rocchigiani M. Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes. Genomics. 1998 Jan 15; 47(2):207-16. PMID: 9479493.
      Citations: 7     Fields:    Translation:HumansCells
    320. Ballabio A, Banfi S, Borsani G. A practical guide to orient yourself in the labyrinth of genome databases. Hum Mol Genet. 1998; 7(10):1641-8. PMID: 9735386.
      Citations: 1     Fields:    Translation:Humans
    321. Volorio S, Simon G, Repetto M, Cucciardi M, Banfi S, Borsani G, Ballabio A, Zollo M. Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein. DNA Seq. 1998; 9(5-6):307-15. PMID: 10524757.
      Citations:    Fields:    Translation:HumansAnimals
    322. Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. Am J Med Genet. 1997 Dec 12; 73(2):139-43. PMID: 9409863.
      Citations: 3     Fields:    Translation:HumansCells
    323. Valsecchi C, Ghezzi C, Ballabio A, Rugarli EI. JAGGED2: a putative Notch ligand expressed in the apical ectodermal ridge and in sites of epithelial-mesenchymal interactions. Mech Dev. 1997 Dec; 69(1-2):203-7. PMID: 9486542.
      Citations: 13     Fields:    Translation:HumansAnimals
    324. van de Vosse E, Franco B, van der Bent P, Montini E, Orth U, Hanauer A, Tijmes N, van Ommen GJ, Ballabio A, den Dunnen JT, Bergen AA. Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. Hum Genet. 1997 Dec; 101(2):235-7. PMID: 9402977.
      Citations:    Fields:    Translation:HumansCells
    325. Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, Ballabio A. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet. 1997 Nov; 17(3):285-91. PMID: 9354791.
      Citations: 118     Fields:    Translation:HumansAnimalsCells
    326. Adler DA, Rugarli EI, Lingenfelter PA, Tsuchiya K, Poslinski D, Liggitt HD, Chapman VM, Elliott RW, Ballabio A, Disteche CM. Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus. Proc Natl Acad Sci U S A. 1997 Aug 19; 94(17):9244-8. PMID: 9256467; PMCID: PMC23138.
      Citations: 26     Fields:    Translation:AnimalsCells
    327. Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B. A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet. 1997 Aug; 61(2):395-401. PMID: 9311745; PMCID: PMC1715914.
      Citations: 11     Fields:    Translation:HumansCells
    328. Montini E, Rugarli EI, Van de Vosse E, Andolfi G, Mariani M, Puca AA, Consalez GG, den Dunnen JT, Ballabio A, Franco B. A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. Hum Mol Genet. 1997 Jul; 6(7):1137-45. PMID: 9215685.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    329. Rubboli F, Bulfone A, Bogni S, Marchitiello A, Zollo M, Borsani G, Ballabio A, Banfi S. A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms. Genes Funct. 1997 Jun; 1(3):205-13. PMID: 9680295.
      Citations: 3     Fields:    Translation:HumansAnimalsCells
    330. Puca AA, Zollo M, Repetto M, Andolfi G, Guffanti A, Simon G, Ballabio A, Franco B. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. Genomics. 1997 Jun 01; 42(2):192-9. PMID: 9192838.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    331. Parenti G, Meroni G, Ballabio A. The sulfatase gene family. Curr Opin Genet Dev. 1997 Jun; 7(3):386-91. PMID: 9229115.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    332. Meroni G, Reymond A, Alcalay M, Borsani G, Tanigami A, Tonlorenzi R, Lo Nigro C, Messali S, Zollo M, Ledbetter DH, Brent R, Ballabio A, Carrozzo R. Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor. EMBO J. 1997 May 15; 16(10):2892-906. PMID: 9184233; PMCID: PMC1169897.
      Citations: 43     Fields:    Translation:HumansAnimalsCells
    333. Taylor K, Schiebel K, Meroni G, Tsioupra K, Pasantes J, Rietschel W, Toder R, Willmann U, Zeitler S, Yen P, Ballabio A, Rappold G, Schempp W, Gl?ser B, Gr?tzner F. Comparative mapping of Xp22 genes in hominoids--evolutionary linear instability of their Y homologues. Chromosome Res. 1997 May; 5(3):167-76. PMID: 9246409.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    334. De Carlis L, Zurleni F, Ballabio A, Pirotta V, Rondinara G, Sansalone CV, Colella G, Slim AO, Meroni A, Belli L, Forti D. Left thoracic approach for cancer of cardia: early and late results. Int Surg. 1997 Apr-Jun; 82(2):137-40. PMID: 9331840.
      Citations:    Fields:    Translation:Humans
    335. Guffanti A, Banfi S, Simon G, Ballabio A, Borsani G. DRES search engine: of flies, men and ESTs. Trends Genet. 1997 Feb; 13(2):79-80. PMID: 9055610.
      Citations: 1     Fields:    Translation:HumansAnimals
    336. Banfi S, Borsani G, Bulfone A, Ballabio A. Drosophila-related expressed sequences. Hum Mol Genet. 1997; 6(10):1745-53. PMID: 9300667.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    337. Repetto M, Ballabio A, Zollo M. A method to direct sequence cosmid LAWRIST16 clones. DNA Seq. 1997; 7(3-4):229-33. PMID: 9254019.
      Citations:    Fields:    
    338. Renieri A, Bruttini M, Piccini M, Bruno M, Cecconi M, Conti M, Coppo R, La Manna A, Trivelli A, De Marchi M, Ballabio A. Molecular diagnosis of Alport syndrome: the experience in Siena. Contrib Nephrol. 1997; 122:132-3. PMID: 9399055.
      Citations:    Fields:    Translation:HumansCells
    339. Mastroianni N, Bettinelli A, Bianchetti M, Colussi G, De Fusco M, Sereni F, Ballabio A, Casari G. Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet. 1996 Nov; 59(5):1019-26. PMID: 8900229; PMCID: PMC1914834.
      Citations: 41     Fields:    Translation:Humans
    340. MacKenzie JJ, Fitzpatrick J, Babyn P, Ferrero GB, Ballabio A, Billingsley G, Bulman DE, Strasberg P, Ray PN, Costa T. X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred. J Med Genet. 1996 Oct; 33(10):823-8. PMID: 8933334; PMCID: PMC1050760.
      Citations: 6     Fields:    Translation:HumansCells
    341. Muroya K, Ogata T, Matsuo N, Nagai T, Franco B, Ballabio A, Rappold G, Sakura N, Fukushima Y. Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. Am J Med Genet. 1996 Sep 06; 64(4):583-7. PMID: 8870926.
      Citations: 4     Fields:    Translation:HumansCells
    342. Bassi MT, Incerti B, Easty DJ, Sviderskaya EV, Ballabio A. Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. Genome Res. 1996 Sep; 6(9):880-5. PMID: 8889556.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    343. Mills KA, Mathews KD, Scherpbier-Heddema T, Buetow KH, Baldini A, Ballabio A, Borsani G. Genetic and physical mapping of a voltage-dependent chloride channel gene to human 4q32 and to mouse 8. Genomics. 1996 Sep 01; 36(2):374-6. PMID: 8812471.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    344. Schiaffino MV, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, De Luca M, Ballabio A. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Proc Natl Acad Sci U S A. 1996 Aug 20; 93(17):9055-60. PMID: 8799153; PMCID: PMC38594.
      Citations: 36     Fields:    Translation:HumansCells
    345. Mastroianni N, De Fusco M, Zollo M, Arrigo G, Zuffardi O, Bettinelli A, Ballabio A, Casari G. Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). Genomics. 1996 Aug 01; 35(3):486-93. PMID: 8812482.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    346. Rugarli EI, Ghezzi C, Valsecchi V, Ballabio A. The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. Hum Mol Genet. 1996 Aug; 5(8):1109-15. PMID: 8842728.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    347. Dinulos MB, Bassi MT, Rugarli EI, Chapman V, Ballabio A, Disteche CM. A new region of conservation is defined between human and mouse X chromosomes. Genomics. 1996 Jul 01; 35(1):244-7. PMID: 8661129.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    348. Banfi S, Borsani G, Rossi E, Bernard L, Guffanti A, Rubboli F, Marchitiello A, Giglio S, Coluccia E, Zollo M, Zuffardi O, Ballabio A. Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nat Genet. 1996 Jun; 13(2):167-74. PMID: 8640222.
      Citations: 29     Fields:    Translation:HumansAnimalsCells
    349. Schaefer L, Ballabio A, Zoghbi HY. Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). Genomics. 1996 Jun 01; 34(2):166-72. PMID: 8661044.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    350. Renieri A, Bruttini M, Galli L, Zanelli P, Neri T, Rossetti S, Turco A, Heiskari N, Zhou J, Gusmano R, Massella L, Banfi G, Scolari F, Sessa A, Rizzoni G, Tryggvason K, Pignatti PF, Savi M, Ballabio A, De Marchi M. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. Am J Hum Genet. 1996 Jun; 58(6):1192-204. PMID: 8651296; PMCID: PMC1915065.
      Citations: 20     Fields:    Translation:HumansCells
    351. Meroni G, Franco B, Archidiacono N, Messali S, Andolfi G, Rocchi M, Ballabio A. Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. Hum Mol Genet. 1996 Apr; 5(4):423-31. PMID: 8845834.
      Citations: 11     Fields:    Translation:HumansAnimalsCells
    352. Auricchio A, Brancolini V, Casari G, Milla PJ, Smith VV, Devoto M, Ballabio A. The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am J Hum Genet. 1996 Apr; 58(4):743-8. PMID: 8644737; PMCID: PMC1914695.
      Citations: 20     Fields:    Translation:HumansCells
    353. Auricchio A, Casari G, Staiano A, Ballabio A. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum Mol Genet. 1996 Mar; 5(3):351-4. PMID: 8852659.
      Citations: 27     Fields:    Translation:HumansCells
    354. Casey B, Cuneo BF, Vitali C, van Hecke H, Barrish J, Hicks J, Ballabio A, Hoo JJ. Autosomal dominant transmission of familial laterality defects. Am J Med Genet. 1996 Feb 02; 61(4):325-8. PMID: 8834043.
      Citations: 6     Fields:    Translation:Humans
    355. Ballabio A. Positional cloning, transcription mapping, and whole genome gene identification: the choice is yours! Eur J Hum Genet. 1996; 4(6):307. PMID: 9043861.
      Citations:    Fields:    Translation:HumansCells
    356. Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M. Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. Am J Med Genet. 1995 Nov 20; 59(3):380-5. PMID: 8599366.
      Citations: 6     Fields:    Translation:HumansCells
    357. Ballabio A. MLS, Aicardi and Goltz syndromes: how many genes involved? Am J Med Genet. 1995 Oct 23; 59(1):100. PMID: 8848999.
      Citations:    Fields:    Translation:HumansCells
    358. Casey B, Ballabio A. Connexin43 mutations in sporadic and familial defects of laterality. N Engl J Med. 1995 Oct 05; 333(14):941; author reply 941-2. PMID: 7666889.
      Citations: 4     Fields:    Translation:Humans
    359. Ferrero GB, Franco B, Roth EJ, Firulli BA, Borsani G, Delmas-Mata J, Weissenbach J, Halley G, Schlessinger D, Chinault AC, Zoghbi HY, Nelson DL, Ballabio A. An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet. 1995 Oct; 4(10):1821-7. PMID: 8595402.
      Citations: 11     Fields:    Translation:HumansCells
    360. Rugarli EI, Ballabio A. Reelin: a novel extracellular matrix protein involved in brain lamination. Bioessays. 1995 Oct; 17(10):832-4. PMID: 7487964.
      Citations: 1     Fields:    Translation:Animals
    361. Rugarli EI, Adler DA, Borsani G, Tsuchiya K, Franco B, Hauge X, Disteche C, Chapman V, Ballabio A. Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. Nat Genet. 1995 Aug; 10(4):466-71. PMID: 7670496.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    362. Parenti G, Rizzolo MG, Ghezzi M, Di Maio S, Sperandeo MP, Incerti B, Franco B, Ballabio A, Andria G. Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. Am J Med Genet. 1995 Jul 03; 57(3):476-8. PMID: 7677154.
      Citations: 9     Fields:    Translation:HumansCells
    363. Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet. 1995 May; 10(1):13-9. PMID: 7647783.
      Citations: 64     Fields:    Translation:HumansCells
    364. Borsani G, Rugarli EI, Taglialatela M, Wong C, Ballabio A. Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein. Genomics. 1995 May 01; 27(1):131-41. PMID: 7665160.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    365. Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell. 1995 Apr 07; 81(1):15-25. PMID: 7720070.
      Citations: 50     Fields:    Translation:HumansCells
    366. Franco B, Ferrero GB, Chinault AC, Weissenbach J, Chumakov I, Le Paslier D, Levilliers J, Klink A, Rappold GA, Ballabio A, Petit C, Wang I. High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). Genomics. 1995 Mar 20; 26(2):229-38. PMID: 7601447.
      Citations: 2     Fields:    Translation:HumansCells
    367. Schiaffino MV, Bassi MT, Rugarli EI, Renieri A, Galli L, Ballabio A. Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum Mol Genet. 1995 Mar; 4(3):373-82. PMID: 7795590.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    368. Sansalone CV, De Carlis L, Rondinara GF, Colella G, Rossetti O, Slim AO, Aseri P, Pirotta V, Meroni A, Ballabio A, et al. Right hepatic artery replacement from superior mesenteric artery in combined liver-whole pancreas procurement. Technical problems and liver graft artery reconstruction. Transplant Proc. 1994 Dec; 26(6):3537-9. PMID: 7998266.
      Citations:    Fields:    Translation:Humans
    369. Leach RJ, Chinn R, Reus BE, Hayes S, Schantz L, Dubois B, Overhauser J, Ballabio A, Drabkin H, Lewis TB, et al. Regional localization of 188 sequence tagged sites on a somatic cell hybrid mapping panel for human chromosome 3. Genomics. 1994 Dec; 24(3):549-56. PMID: 7713507.
      Citations: 1     Fields:    Translation:HumansAnimalsCells
    370. De Carlis L, Rondinara GF, Arcidiacono R, Rossi A, Sansalone CV, Rossetti O, Romani F, Ballabio A, Colella G, Belli LS, et al. Modified duct-to-duct reconstruction after orthotopic liver transplantation: early and long-term results in 230 procedures. Transplant Proc. 1994 Dec; 26(6):3547-9. PMID: 7998271.
      Citations: 1     Fields:    Translation:Humans
    371. Lutz B, Kuratani S, Rugarli EI, Wawersik S, Wong C, Bieber FR, Ballabio A, Eichele G. Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo. Hum Mol Genet. 1994 Oct; 3(10):1717-23. PMID: 7849694.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    372. Galli L, Zhou J, Ballabio A, De Marchi M, Renieri A. A Bg/II polymorphism in the COL4A6 gene. Hum Mol Genet. 1994 Oct; 3(10):1914. PMID: 7849730.
      Citations:    Fields:    Translation:HumansCells
    373. Wapenaar MC, Schiaffino MV, Bassi MT, Schaefer L, Chinault AC, Zoghbi HY, Ballabio A. A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22. Hum Mol Genet. 1994 Jul; 3(7):1155-61. PMID: 7981686.
      Citations: 7     Fields:    Translation:HumansCells
    374. Bassi MT, Bergen AA, Wapenaar MC, Schiaffino MV, van Schooneveld M, Yates JR, Charles SJ, Meitinger T, Ballabio A. A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1). Hum Mol Genet. 1994 Apr; 3(4):647-8. PMID: 8069311.
      Citations: 2     Fields:    Translation:HumansCells
    375. van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Conciliis L, Rugarli EI, Grillo A, Franco B, Zoghbi HY, Ballabio A. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet. 1994 Apr; 3(4):547-52. PMID: 8069296.
      Citations: 31     Fields:    Translation:HumansAnimalsCells
    376. Yen PH, Ferrero GB, Chinault AC, Mohandas T, Ballabio A. Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency. Hum Mutat. 1994; 4(1):76-8. PMID: 7951263.
      Citations:    Fields:    Translation:HumansCells
    377. Bassi MT, Galli L, Zhou J, Giani M, De Marchi M, Ballabio A, Renieri A. Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis. Hum Mutat. 1994; 4(3):195-8. PMID: 7833948.
      Citations: 6     Fields:    Translation:Humans
    378. Rugarli EI, Ballabio A. Kallmann syndrome. From genetics to neurobiology. JAMA. 1993 Dec 08; 270(22):2713-6. PMID: 8133589.
      Citations: 8     Fields:    Translation:Humans
    379. Jensen TG, Jensen UB, Jensen PK, Ibsen HH, Brandrup F, Ballabio A, Bolund L. Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis. Exp Cell Res. 1993 Dec; 209(2):392-7. PMID: 8262159.
      Citations: 4     Fields:    Translation:HumansCells
    380. Casey B, Devoto M, Jones KL, Ballabio A. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet. 1993 Dec; 5(4):403-7. PMID: 8298651.
      Citations: 17     Fields:    Translation:HumansCells
    381. Lee WC, Ferrero GB, Chinault AC, Yen PH, Ballabio A. A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm. Genomics. 1993 Oct; 18(1):1-6. PMID: 8276392.
      Citations:    Fields:    Translation:HumansCells
    382. Daniele A, Russo T, Ballabio A, Di Natale P. The mouse iduronate sulfatase gene: identification of a novel transcript. Biochem Biophys Res Commun. 1993 Aug 16; 194(3):1030-7. PMID: 8352760.
      Citations:    Fields:    Translation:HumansAnimalsCells
    383. Schaefer L, Ferrero GB, Grillo A, Bassi MT, Roth EJ, Wapenaar MC, van Ommen GJ, Mohandas TK, Rocchi M, Zoghbi HY, Ballabio A. A high resolution deletion map of human chromosome Xp22. Nat Genet. 1993 Jul; 4(3):272-9. PMID: 8358436.
      Citations: 14     Fields:    Translation:HumansCells
    384. Wapenaar MC, Bassi MT, Schaefer L, Grillo A, Ferrero GB, Chinault AC, Ballabio A, Zoghbi HY. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum Mol Genet. 1993 Jul; 2(7):947-52. PMID: 8364577.
      Citations: 9     Fields:    Translation:HumansCells
    385. Bick DP, Ballabio A. Bringing Kallmann syndrome into focus. AJNR Am J Neuroradiol. 1993 Jul-Aug; 14(4):852-4. PMID: 8352156; PMCID: PMC8333851.
      Citations: 1     Fields:    Translation:Humans
    386. Lutz B, Rugarli EI, Eichele G, Ballabio A. X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system? FEBS Lett. 1993 Jun 28; 325(1-2):128-34. PMID: 8513884.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    387. Daniele A, Faust CJ, Herman GE, Di Natale P, Ballabio A. Cloning and characterization of the cDNA for the murine iduronate sulfatase gene. Genomics. 1993 Jun; 16(3):755-7. PMID: 8325651.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    388. Rugarli EI, Lutz B, Kuratani SC, Wawersik S, Borsani G, Ballabio A, Eichele G. Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting. Nat Genet. 1993 May; 4(1):19-26. PMID: 8513320.
      Citations: 24     Fields:    Translation:HumansAnimalsCells
    389. Ballabio A. The rise and fall of positional cloning? Nat Genet. 1993 Apr; 3(4):277-9. PMID: 7981743.
      Citations: 12     Fields:    Translation:HumansCells
    390. Marino M, Archidiacono N, Rosati M, Rocchi M, Ballabio A, Grimaldi G, Franz? A. A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression. Mamm Genome. 1993; 4(5):252-7. PMID: 8507979.
      Citations:    Fields:    Translation:HumansAnimalsCells
    391. Incerti B, Guioli S, Pragliola A, Zanaria E, Borsani G, Tonlorenzi R, Bardoni B, Franco B, Wheeler D, Ballabio A, et al. Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes. Nat Genet. 1992 Dec; 2(4):311-4. PMID: 1303285.
      Citations: 8     Fields:    Translation:HumansCells
    392. Worley KC, Towbin JA, Zhu XM, Barker DF, Ballabio A, Chamberlain J, Biesecker LG, Blethen SL, Brosnan P, Fox JE, et al. Identification of new markers in Xp21 between DXS28 (C7) and DMD. Genomics. 1992 Aug; 13(4):957-61. PMID: 1505987.
      Citations: 5     Fields:    Translation:HumansCells
    393. Guioli S, Incerti B, Zanaria E, Bardoni B, Franco B, Taylor K, Ballabio A, Camerino G. Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nat Genet. 1992 Aug; 1(5):337-40. PMID: 1302031.
      Citations: 7     Fields:    Translation:HumansCells
    394. Bernatowicz LF, Li XM, Carrozzo R, Ballabio A, Mohandas T, Yen PH, Shapiro LJ. Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints. Genomics. 1992 Jul; 13(3):892-3. PMID: 1639422.
      Citations: 1     Fields:    Translation:HumansCells
    395. Ballabio A, Andria G. Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Hum Mol Genet. 1992 Jul; 1(4):221-7. PMID: 1303191.
      Citations: 28     Fields:    Translation:HumansCells
    396. Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A. Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. N Engl J Med. 1992 Jun 25; 326(26):1752-5. PMID: 1594017.
      Citations: 26     Fields:    Translation:HumansCells
    397. Ballabio A, Willard HF. Mammalian X-chromosome inactivation and the XIST gene. Curr Opin Genet Dev. 1992 Jun; 2(3):439-47. PMID: 1504619.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    398. Ballabio A, Camerino G. The gene for X-linked Kallmann syndrome: a human neuronal migration defect. Curr Opin Genet Dev. 1992 Jun; 2(3):417-21. PMID: 1504616.
      Citations: 7     Fields:    Translation:HumansCells
    399. Wapenaar MC, Petit C, Basler E, Ballabio A, Henke A, Rappold GA, van Paassen HM, Blonden LA, van Ommen GJ. Physical mapping of 14 new DNA markers isolated from the human distal Xp region. Genomics. 1992 May; 13(1):167-75. PMID: 1349572.
      Citations: 5     Fields:    Translation:HumansCells
    400. Grompe M, Pieretti M, Caskey CT, Ballabio A. The sulfatase gene family: cross-species PCR cloning using the MOPAC technique. Genomics. 1992 Apr; 12(4):755-60. PMID: 1572648.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    401. Basler E, Grompe M, Parenti G, Yates J, Ballabio A. Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am J Hum Genet. 1992 Mar; 50(3):483-91. PMID: 1539590; PMCID: PMC1684279.
      Citations: 8     Fields:    Translation:HumansCells
    402. Carrozzo R, Ellison J, Yen P, Taillon-Miller P, Brownstein BH, Persico G, Ballabio A, Shapiro L. Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene. Genomics. 1992 Jan; 12(1):7-12. PMID: 1733866.
      Citations:    Fields:    Translation:HumansCells
    403. Sainty JM, Dumon JF, Dupin B, Lapicque JC, Fuentes P, Bordigoni L, Ballabio A, Giudicelli R, Barth?l?my A. [Non-malignant esophagotracheal fistulas in adults. Experience with 35 cases]. Ann Chir. 1992; 46(8):738-41. PMID: 1285614.
      Citations:    Fields:    Translation:Humans
    404. Palmieri G, Capra V, Romano G, D'Urso M, Johnson S, Schlessinger D, Morris P, Hopwood J, Di Natale P, Gatti R, Ballabio A. The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome. Genomics. 1992 Jan; 12(1):52-7. PMID: 1733863.
      Citations: 10     Fields:    Translation:HumansCells
    405. Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli CF, Viggiano D, Strisciuglio P, Ballabio A. Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. Am J Med Genet. 1991 Nov 01; 41(2):184-7. PMID: 1785631.
      Citations: 6     Fields:    Translation:HumansCells
    406. Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Graziella Persico M, Camerino G, Ballabio A. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature. 1991 Oct 10; 353(6344):529-36. PMID: 1922361.
      Citations: 180     Fields:    Translation:HumansCells
    407. Zuffardi O, Guioli S, Ballabio A, Simi P, Cavalli P, Grimoldi MG, Fraccaro M, Camerino G, Bardoni B. A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics. 1991 Oct; 11(2):443-51. PMID: 1769656.
      Citations: 27     Fields:    Translation:HumansCells
    408. Nelson DL, Ballabio A, Victoria MF, Pieretti M, Bies RD, Gibbs RA, Maley JA, Chinault AC, Webster TD, Caskey CT. Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proc Natl Acad Sci U S A. 1991 Jul 15; 88(14):6157-61. PMID: 2068096; PMCID: PMC52041.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    409. Ballabio A. Contiguous deletion syndromes. Curr Opin Genet Dev. 1991 Jun; 1(1):25-9. PMID: 1840874.
      Citations: 4     Fields:    Translation:HumansCells
    410. Pieretti M, Tonlorenzi R, Ballabio A. Rapid assembly of lambda phage contigs within YAC clones. Nucleic Acids Res. 1991 May 25; 19(10):2795-6. PMID: 1828295; PMCID: PMC328218.
      Citations: 3     Fields:    Translation:HumansCells
    411. Borsani G, Tonlorenzi R, Simmler MC, Dandolo L, Arnaud D, Capra V, Grompe M, Pizzuti A, Muzny D, Lawrence C, Willard HF, Avner P, Ballabio A. Characterization of a murine gene expressed from the inactive X chromosome. Nature. 1991 May 23; 351(6324):325-9. PMID: 2034278.
      Citations: 197     Fields:    Translation:HumansAnimalsCells
    412. Dominioni L, Dionigi R, Zanello M, Chiaranda M, Acquarolo A, Ballabio A, Sguotti C. Effects of high-dose IgG on survival of surgical patients with sepsis scores of 20 or greater. Arch Surg. 1991 Feb; 126(2):236-40. PMID: 1992998.
      Citations: 17     Fields:    Translation:HumansCTClinical Trials
    413. Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature. 1991 Jan 03; 349(6304):38-44. PMID: 1985261.
      Citations: 592     Fields:    Translation:HumansCells
    414. Brown CJ, Lafreniere RG, Powers VE, Sebastio G, Ballabio A, Pettigrew AL, Ledbetter DH, Levy E, Craig IW, Willard HF. Localization of the X inactivation centre on the human X chromosome in Xq13. Nature. 1991 Jan 03; 349(6304):82-4. PMID: 1985270.
      Citations: 133     Fields:    Translation:HumansCells
    415. Heye B, Petit C, Levilliers J, Golla A, Moraine C, Dalla Piccola B, Sippell WG, Murken J, Ballabio A, Meitinger T. Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. Am J Hum Genet. 1990 Oct; 47(4):664-9. PMID: 1977309; PMCID: PMC1683776.
      Citations: 8     Fields:    Translation:HumansCells
    416. Ballabio A, Bardoni B, Guioli S, Basler E, Camerino G. Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region. Genomics. 1990 Oct; 8(2):263-70. PMID: 2249849.
      Citations: 9     Fields:    Translation:HumansCells
    417. Bick D, Ballabio A. Chromosome abnormalities in and pathogenesis of Kallmann syndrome. Am J Med Genet. 1990 Oct; 37(2):298. PMID: 2082963.
      Citations:    Fields:    Translation:HumansAnimalsCells
    418. Ballabio A, Ranier JE, Chamberlain JS, Zollo M, Caskey CT. Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Hum Genet. 1990 May; 84(6):571-3. PMID: 2338343.
      Citations: 4     Fields:    Translation:HumansCells
    419. Ross MT, Ballabio A, Craig IW. Long-range physical mapping around the human steroid sulfatase locus. Genomics. 1990 Mar; 6(3):528-39. PMID: 2328992.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    420. Ballabio A, Gibbs RA, Caskey CT. PCR test for cystic fibrosis deletion. Nature. 1990 Jan 18; 343(6255):220. PMID: 2300168.
      Citations: 22     Fields:    Translation:HumansCells
    421. Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, et al. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A. 1989 Dec; 86(24):10001-5. PMID: 2602357; PMCID: PMC298630.
      Citations: 49     Fields:    Translation:HumansCells
    422. Zannini P, Roviaro GC, Voci C, Baisi A, Ballabio A, Negri G. [The role of esophageal manometry in the surgical treatment of epiphrenic diverticula]. Minerva Med. 1989 Jul; 80(7):789-91. PMID: 2506492.
      Citations:    Fields:    Translation:Humans
    423. Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA, et al. Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics. 1989 Jan; 4(1):36-40. PMID: 2644167.
      Citations: 22     Fields:    Translation:HumansCellsCTClinical Trials
    424. Ballabio A, Carrozzo R, Gil A, Gillard B, Affara N, Ferguson-Smith MA, Fraser N, Craig I, Rocchi M, Romeo G. Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq. Ann Hum Genet. 1989 01; 53(1):9-14. PMID: 2729897.
      Citations: 9     Fields:    Translation:HumansCells
    425. Piccirillo A, Auricchio L, Fabbrocini G, Parenti G, Ballabio A, Delfino M. Ocular findings and skin histology in a group of patients with X-linked ichthyosis. Br J Dermatol. 1988 Aug; 119(2):185-8. PMID: 3166940.
      Citations: 3     Fields:    Translation:HumansCells
    426. Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, Migliori V, Silengo M, Franceschini P, Andria G. X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene. Clin Genet. 1988 Jul; 34(1):31-7. PMID: 3165728.
      Citations: 11     Fields:    Translation:HumansCells
    427. Andria G, Ballabio A, Parenti G. More on X-linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia. Ann Neurol. 1988 Jan; 23(1):103. PMID: 3422798.
      Citations:    Fields:    Translation:HumansCells
    428. Ballabio A, Sebastio G, Carrozzo R, Parenti G, Piccirillo A, Persico MG, Andria G. Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome. Hum Genet. 1987 Dec; 77(4):338-41. PMID: 3480263.
      Citations: 9     Fields:    Translation:HumansCells
    429. Andria G, Ballabio A, Parenti G. X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia. Ann Neurol. 1987 Jul; 22(1):98-9. PMID: 3477126.
      Citations: 1     Fields:    Translation:HumansCells
    430. Ballabio A, Parenti G, Carrozzo R, Sebastio G, Andria G, Buckle V, Fraser N, Craig I, Rocchi M, Romeo G, et al. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci U S A. 1987 Jul; 84(13):4519-23. PMID: 3474618; PMCID: PMC305121.
      Citations: 32     Fields:    Translation:HumansCells
    431. Dominioni L, Dionigi R, Zanello M, Monico R, Cremaschi R, Ballabio A, Massa M, Comelli M, Dal Ri P, et al. Sepsis score and acute-phase protein response as predictors of outcome in septic surgical patients. Arch Surg. 1987 Feb; 122(2):141-6. PMID: 3492985.
      Citations: 11     Fields:    Translation:Humans
    432. Fraser N, Ballabio A, Zollo M, Persico G, Craig I. Identification of incomplete coding sequences for steroid sulphatase on the human Y chromosome: evidence for an ancestral pseudoautosomal gene? Development. 1987; 101 Suppl:127-32. PMID: 3503710.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    433. Parenti G, Ballabio A, Hoogeveen AT, Van der Loos CM, Jobsis AC, Andria G. Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency. J Inherit Metab Dis. 1987; 10(3):224-8. PMID: 3123779.
      Citations: 3     Fields:    Translation:HumansCells
    434. Sebastio G, Hunziker W, Ballabio A, Auricchio S, Semenza G. On the primary site of control in the spontaneous development of small-intestinal sucrase-isomaltase after birth. FEBS Lett. 1986 Nov 24; 208(2):460-4. PMID: 3780983.
      Citations: 4     Fields:    Translation:AnimalsCells
    435. Chase DS, Morris AH, Ballabio A, Pepper S, Giannelli F, Adinolfi M. Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis. Ann Hum Genet. 1986 10; 50(4):349-60. PMID: 3126700.
      Citations: 5     Fields:    Translation:Humans
    436. Strisciuglio P, Ballabio A, Parenti G. Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship. J Med Genet. 1986 Oct; 23(5):459-60. PMID: 3783624; PMCID: PMC1049785.
      Citations: 5     Fields:    Translation:Humans
    437. Ballabio A, Parenti G, Tippett P, Mondello C, Di Maio S, Tenore A, Andria G. X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. Hum Genet. 1986 Mar; 72(3):237-40. PMID: 3007328.
      Citations: 24     Fields:    Translation:HumansCells
    438. Dionigi R, Dominioni L, Jemos V, Cremaschi R, Bobbio-Pallavicini F, Ballabio A. Sepsis score and complement factor B for monitoring severely septic surgical patients and for predicting their survival. Eur Surg Res. 1985; 17(5):269-80. PMID: 3850809.
      Citations: 5     Fields:    Translation:Humans
    439. Ballabio A, Parenti G, Napolitano E, Di Natale P, Andria G. Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency. Hum Genet. 1985; 70(4):315-7. PMID: 3860470.
      Citations: 7     Fields:    Translation:HumansCells
    440. Andria G, Ballabio A, Parenti G, DiMaio S, Piccirillo A. Steroid sulphatase deficiency and hypogonadism. Eur J Pediatr. 1984 Sep; 142(4):304-5. PMID: 6489382.
      Citations: 5     Fields:    Translation:Humans
    441. Ballabio A, Pallini R, Di Natale P. Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients. Clin Genet. 1984 Feb; 25(2):191-5. PMID: 6231143.
      Citations: 4     Fields:    Translation:HumansCells
    442. Andria G, Ballabio A, Parenti G, Di Maio S, Piccirillo A. Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'. J Inherit Metab Dis. 1984; 7 Suppl 2:159-60. PMID: 6434878.
      Citations: 8     Fields:    Translation:Humans
    443. Dionigi R, Dominioni L, Gnes F, Ballabio A. The effects of total parenteral nutrition on immunodepression due to malnutrition. Ann Surg. 1977 Apr; 185(4):467-74. PMID: 402893; PMCID: PMC1396127.
      Citations: 17     Fields:    Translation:AnimalsCells
    444. Gualandri V, Ballabio A. [On the relations between acquired cardiac diseases and ABO blood group systems]. Acta Genet Med Gemellol (Roma). 1965 Oct; 14(4):392-405. PMID: 5889296.
      Citations: 2     Fields:    Translation:Humans
    445. BALLABIO A, GUALANDRI V, PARENTI GF. [CLINICO-STATISTICAL FINDINGS ON ACQUIRED CARDIAC VALVE DISEASES]. Reumatismo. 1965 Jan-Feb; 17:28-34. PMID: 14299216.
      Citations:    Fields:    Translation:Humans
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