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ANDREA BALLABIO

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
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    R01HD028333     (SHAFFER, LISA)Jul 15, 1991 - Jun 30, 1997
    NIH/NICHD
    CLONING OF DISEASE GENES FROM THE HUMAN XP22.3 REGION
    Role: Co-Principal Investigator

    R01GM046970     (CHINAULT, ALAN CRAIG)Feb 1, 1992 - Jan 31, 1997
    NIH/NIGMS
    XIST GENE AND ITS ROLE IN X-INACTIVATION
    Role: Co-Principal Investigator

    R01EY015136     (BALLABIO, ANDREA)Sep 30, 2003 - Aug 31, 2008
    NIH/NEI
    Ocular Albinism type 1: from molecular bases to gene delivery
    Role: Principal Investigator

    R01NS078072     (BALLABIO, ANDREA)Sep 1, 2012 - Jun 30, 2021
    NIH/NINDS
    Modulation of Cellular Clearance to Treat Human Disease
    Role: Principal Investigator

    R13NS100248     (BALLABIO, ANDREA)Sep 30, 2016 - Aug 31, 2017
    NIH/NINDS
    2017 Lysosomal Diseases Gordon Research Conference and Gordon Research Seminar
    Role: 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.
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    1. 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 Jun 17; 38(12). PMID: 31126958.
      View in: PubMed
    2. 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 Apr 10. PMID: 31070736.
      View in: PubMed
    3. 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 Mar 20; 1-16. PMID: 30894069.
      View in: PubMed
    4. Carballo-Carbajal I, Laguna A, Romero-Giménez J, Cuadros T, Bové J, Martinez-Vicente M, Parent A, Gonzalez-Sepulveda M, Peñuelas N, Torra A, Rodríguez-Galván B, Ballabio A, Hasegawa T, Bortolozzi A, Gelpi E, Vila M. Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson's disease pathogenesis. Nat Commun. 2019 03 07; 10(1):973. PMID: 30846695.
      View in: PubMed
    5. 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.
      View in: PubMed
    6. Doronzo G, Astanina E, Corà D, Chiabotto G, Comunanza V, Noghero A, Neri F, Puliafito A, Primo L, Spampanato C, Settembre C, Ballabio A, Camussi G, Oliviero S, Bussolino F. TFEB controls vascular development by regulating the proliferation of endothelial cells. EMBO J. 2019 Feb 01; 38(3). PMID: 30591554.
      View in: PubMed
    7. 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 µm. Opt Express. 2018 Dec 24; 26(26):34366-34372. PMID: 30650859.
      View in: PubMed
    8. 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 Dec 18; 25(12):3299-3314.e6. PMID: 30566858.
      View in: PubMed
    9. Di Malta C, Ballabio A. Transcriptional regulation of mTORC1 in cancer. Oncotarget. 2018 Dec 04; 9(95):36734-36735. PMID: 30613362.
      View in: PubMed
    10. 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.
      View in: PubMed
    11. 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 Dec; 246(4):470-484. PMID: 30073645.
      View in: PubMed
    12. 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.
      View in: PubMed
    13. Ambrosio S, Ballabio A, Majello B. Histone methyl-transferases and demethylases in the autophagy regulatory network: the emerging role of KDM1A/LSD1 demethylase. Autophagy. 2018 Sep 13; 1-10. PMID: 30208749.
      View in: PubMed
    14. 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 Jan; 15(1):151-164. PMID: 30145926.
      View in: PubMed
    15. 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.
      View in: PubMed
    16. Bietti S, Basset FB, Scarpellini D, Fedorov A, Ballabio A, Esposito L, Elborg M, Kuroda T, Nemcsics Á, Tóth L, Manzoni C, Vozzi C, Sanguinetti S. Ga metal nanoparticle-GaAs quantum molecule complexes for terahertz generation. Nanotechnology. 2018 Sep 07; 29(36):365602. PMID: 29911655.
      View in: PubMed
    17. 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.
      View in: PubMed
    18. 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.
      View in: PubMed
    19. Torra A, Parent A, Cuadros T, Rodríguez-Galván B, Ruiz-Bronchal E, Ballabio A, Bortolozzi A, Vila M, Bové 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.
      View in: PubMed
    20. Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab. 2018 03; 123(3):337-346. PMID: 29397290.
      View in: PubMed
    21. 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.
      View in: PubMed
    22. Soria LR, Allegri G, Melck D, Pastore N, Annunziata P, Paris D, Polishchuk E, Nusco E, Thöny B, Motta A, Häberle J, Ballabio A, Brunetti-Pierri N. 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.
      View in: PubMed
    23. 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.
      View in: PubMed
    24. Serna S, Vakarin V, Ramirez JM, Frigerio J, Ballabio A, Le Roux X, Vivien L, Isella G, 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.
      View in: PubMed
    25. Bretou M, Sáez PJ, Sanséau D, Maurin M, Lankar D, Chabaud M, Spampanato C, Malbec O, Barbier L, Muallem S, Maiuri P, Ballabio A, Helft J, Piel M, Vargas P, Lennon-Duménil AM. Lysosome signaling controls the migration of dendritic cells. Sci Immunol. 2017 10 27; 2(16). PMID: 29079589.
      View in: PubMed
    26. 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.
      View in: PubMed
    27. 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.
      View in: PubMed
    28. Vakarin V, Ramírez JM, Frigerio J, Ballabio A, Le Roux X, Liu Q, Bouville D, Vivien L, Isella G, Marris-Morini D. 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.
      View in: PubMed
    29. 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.
      View in: PubMed
    30. 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.
      View in: PubMed
    31. 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.
      View in: PubMed
    32. Galluzzi L, Baehrecke EH, Ballabio A, Boya P, Bravo-San Pedro JM, Cecconi F, Choi AM, Chu CT, Codogno P, Colombo MI, Cuervo AM, Debnath J, Deretic V, Dikic I, Eskelinen EL, Fimia GM, Fulda S, Gewirtz DA, Green DR, Hansen M, Harper JW, Jäättelä M, Johansen T, Juhasz G, Kimmelman AC, Kraft C, Ktistakis NT, Kumar S, Levine B, Lopez-Otin C, Madeo F, Martens S, Martinez J, Melendez A, Mizushima N, Münz C, 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, Kroemer G. Molecular definitions of autophagy and related processes. EMBO J. 2017 07 03; 36(13):1811-1836. PMID: 28596378.
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    33. 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.
      View in: PubMed
    34. 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.
      View in: PubMed
    35. 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.
      View in: PubMed
    36. 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.
      View in: PubMed
    37. 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.
      View in: PubMed
    38. 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.
      View in: PubMed
    39. 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.
      View in: PubMed
    40. 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.
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    41. 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 a-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease. Mol Ther. 2007 Mar; 15(3):508-514. PMID: 28182897.
      View in: PubMed
    42. 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.
      View in: PubMed
    43. 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.
      View in: PubMed
    44. 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.
      View in: PubMed
    45. Calcagnì A, 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. Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling. Elife. 2016 Sep 26; 5. PMID: 27668431.
      View in: PubMed
    46. 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.
      View in: PubMed
    47. 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.
      View in: PubMed
    48. Napolitano G, Ballabio A. TFEB at a glance. J Cell Sci. 2016 07 01; 129(13):2475-81. PMID: 27252382.
      View in: PubMed
    49. 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.
      View in: PubMed
    50. Pastore N, Brady OA, Diab HI, Martina JA, Sun L, Huynh T, Lim JA, Zare H, Raben N, Ballabio A, Puertollano R. 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.
      View in: PubMed
    51. Rega LR, Polishchuk E, Montefusco S, Napolitano G, Tozzi G, Zhang J, Bellomo F, Taranta A, Pastore A, Polishchuk R, Piemonte F, Medina DL, Catz SD, Ballabio A, 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.
      View in: PubMed
    52. 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.
      View in: PubMed
    53. 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.
      View in: PubMed
    54. Ballabio A. The awesome lysosome. EMBO Mol Med. 2016 Feb 01; 8(2):73-6. PMID: 26787653.
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    55. Bouché V, Espinosa AP, Leone L, Sardiello M, Ballabio A, Botas J. Drosophila Mitf regulates the V-ATPase and the lysosomal-autophagic pathway. Autophagy. 2016; 12(3):484-98. PMID: 26761346.
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    157. 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.
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    158. 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.
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    159. 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.
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    160. De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni 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.
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    161. 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.
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    162. 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.
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    163. 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.
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    164. Angeletti B, Löster J, Auricchio A, Gekeler F, Shinoda K, Ballabio A, Graw J, Marigo V. 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.
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    165. 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.
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    166. 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.
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    167. Ferrante P, Messali S, Meroni G, Ballabio A. Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG). Eur J Hum Genet. 2002 Dec; 10(12):813-8. PMID: 12461688.
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    168. Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet. 2002 Oct; 71(4):952-8. PMID: 12189593.
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    169. 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.
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    170. Berti C, Messali S, Ballabio A, Reymond A, Meroni G. TRIM9 is specifically expressed in the embryonic and adult nervous system. Mech Dev. 2002 May; 113(2):159-62. PMID: 11960705.
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    171. 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.
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    172. Barbieri AM, Broccoli V, Bovolenta P, Alfano G, Marchitiello A, Mocchetti C, Crippa L, Bulfone A, Marigo V, Ballabio A, Banfi S. Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Development. 2002 Feb; 129(3):805-13. PMID: 11830579.
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    173. Pierantoni GM, Bulfone A, Pentimalli F, Fedele M, Iuliano R, Santoro M, Chiariotti L, Ballabio A, Fusco A. 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.
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    174. 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.
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    175. 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.
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