Connection

HUDA ZOGHBI to Animals

This is a "connection" page, showing publications HUDA ZOGHBI has written about Animals.
Connection Strength

2.937
  1. The Atoh1-Cre Knock-In Allele Ectopically Labels a Subpopulation of Amacrine Cells and Bipolar Cells in Mouse Retina. eNeuro. 2023 11; 10(11).
    View in: PubMed
    Score: 0.041
  2. A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels. Genes Dev. 2023 10 01; 37(19-20):883-900.
    View in: PubMed
    Score: 0.041
  3. Atoh1 drives the heterogeneity of the pontine nuclei neurons and promotes their differentiation. Sci Adv. 2023 06 30; 9(26):eadg1671.
    View in: PubMed
    Score: 0.040
  4. MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function. Elife. 2023 02 27; 12.
    View in: PubMed
    Score: 0.039
  5. Evolutionarily conserved regulators of tau identify targets for new therapies. Neuron. 2023 03 15; 111(6):824-838.e7.
    View in: PubMed
    Score: 0.039
  6. Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1. Neuron. 2023 02 15; 111(4):481-492.e8.
    View in: PubMed
    Score: 0.039
  7. Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine-expanded ataxin-1. J Clin Invest. 2022 05 02; 132(9).
    View in: PubMed
    Score: 0.037
  8. Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model. JCI Insight. 2022 04 22; 7(8).
    View in: PubMed
    Score: 0.037
  9. A weakened recurrent circuit in the hippocampus of Rett syndrome mice disrupts long-term memory representations. Neuron. 2022 05 18; 110(10):1689-1699.e6.
    View in: PubMed
    Score: 0.037
  10. Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome. Nature. 2021 04; 592(7855):596-600.
    View in: PubMed
    Score: 0.034
  11. Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions. Genes Dev. 2021 04 01; 35(7-8):489-494.
    View in: PubMed
    Score: 0.034
  12. Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1. EMBO J. 2021 04 01; 40(7):e106106.
    View in: PubMed
    Score: 0.034
  13. Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome. Sci Transl Med. 2021 03 03; 13(583).
    View in: PubMed
    Score: 0.034
  14. Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1. JCI Insight. 2021 02 08; 6(3).
    View in: PubMed
    Score: 0.034
  15. Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice. Elife. 2021 01 26; 10.
    View in: PubMed
    Score: 0.034
  16. MeCP2 Levels Regulate the 3D Structure of Heterochromatic Foci in Mouse Neurons. J Neurosci. 2020 11 04; 40(45):8746-8766.
    View in: PubMed
    Score: 0.033
  17. miR760 regulates ATXN1 levels via interaction with its 5' untranslated region. Genes Dev. 2020 09 01; 34(17-18):1147-1160.
    View in: PubMed
    Score: 0.033
  18. Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation. Elife. 2020 04 22; 9.
    View in: PubMed
    Score: 0.032
  19. Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome. Elife. 2020 03 11; 9.
    View in: PubMed
    Score: 0.032
  20. Development of the brainstem respiratory circuit. Wiley Interdiscip Rev Dev Biol. 2020 05; 9(3):e366.
    View in: PubMed
    Score: 0.031
  21. Neurexophilin4 is a selectively expressed a-neurexin ligand that modulates specific cerebellar synapses and motor functions. Elife. 2019 09 16; 8.
    View in: PubMed
    Score: 0.031
  22. A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability. Mol Psychiatry. 2020 10; 25(10):2504-2516.
    View in: PubMed
    Score: 0.030
  23. An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function. Mol Psychiatry. 2020 10; 25(10):2534-2555.
    View in: PubMed
    Score: 0.029
  24. RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins. Cell Rep. 2018 10 16; 25(3):726-736.e7.
    View in: PubMed
    Score: 0.029
  25. PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1. Hum Mol Genet. 2018 08 15; 27(16):2863-2873.
    View in: PubMed
    Score: 0.029
  26. Mouse models as a tool for discovering new neurological diseases. Neurobiol Learn Mem. 2019 11; 165:106902.
    View in: PubMed
    Score: 0.028
  27. Loss of Atoh1 from neurons regulating hypoxic and hypercapnic chemoresponses causes neonatal respiratory failure in mice. Elife. 2018 07 04; 7.
    View in: PubMed
    Score: 0.028
  28. Genome-wide distribution of linker histone H1.0 is independent of MeCP2. Nat Neurosci. 2018 06; 21(6):794-798.
    View in: PubMed
    Score: 0.028
  29. Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity. Elife. 2018 03 23; 7.
    View in: PubMed
    Score: 0.028
  30. Motor neuron degeneration correlates with respiratory dysfunction in SCA1. Dis Model Mech. 2018 02 26; 11(2).
    View in: PubMed
    Score: 0.028
  31. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.
    View in: PubMed
    Score: 0.028
  32. Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma. Proc Natl Acad Sci U S A. 2018 02 13; 115(7):E1511-E1519.
    View in: PubMed
    Score: 0.028
  33. Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth. Elife. 2017 11 23; 6.
    View in: PubMed
    Score: 0.027
  34. An RNA interference screen identifies druggable regulators of MeCP2 stability. Sci Transl Med. 2017 Aug 23; 9(404).
    View in: PubMed
    Score: 0.027
  35. An Atoh1-S193A Phospho-Mutant Allele Causes Hearing Deficits and Motor Impairment. J Neurosci. 2017 09 06; 37(36):8583-8594.
    View in: PubMed
    Score: 0.027
  36. Solving the puzzle of neurological diseases: an interview with Huda Zoghbi. Dis Model Mech. 2017 05 01; 10(5):503-507.
    View in: PubMed
    Score: 0.026
  37. Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn. Neuron. 2017 Apr 19; 94(2):294-303.e4.
    View in: PubMed
    Score: 0.026
  38. Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models. Hum Mol Genet. 2016 12 01; 25(23):5083-5093.
    View in: PubMed
    Score: 0.025
  39. Neurodegeneration: From cellular concepts to clinical applications. Sci Transl Med. 2016 11 09; 8(364):364ps18.
    View in: PubMed
    Score: 0.025
  40. Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci. 2016 10 26; 19(11):1408-1417.
    View in: PubMed
    Score: 0.025
  41. TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau. Elife. 2016 10 25; 5.
    View in: PubMed
    Score: 0.025
  42. Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model. Neuron. 2016 Oct 19; 92(2):407-418.
    View in: PubMed
    Score: 0.025
  43. Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model. Neuron. 2016 Aug 17; 91(4):739-747.
    View in: PubMed
    Score: 0.025
  44. Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. Elife. 2016 06 21; 5.
    View in: PubMed
    Score: 0.025
  45. Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders. Elife. 2016 06 21; 5.
    View in: PubMed
    Score: 0.025
  46. Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes. Elife. 2015 Dec 17; 4.
    View in: PubMed
    Score: 0.024
  47. Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Nature. 2015 Dec 03; 528(7580):123-6.
    View in: PubMed
    Score: 0.024
  48. Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes. Neuron. 2015 Nov 18; 88(4):651-8.
    View in: PubMed
    Score: 0.024
  49. MECP2 disorders: from the clinic to mice and back. J Clin Invest. 2015 Aug 03; 125(8):2914-23.
    View in: PubMed
    Score: 0.023
  50. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci U S A. 2015 Apr 28; 112(17):5509-14.
    View in: PubMed
    Score: 0.023
  51. Deep brain stimulation for Parkinson disease: the 2014 Lasker-DeBakey Clinical Medical Research Award. JAMA Neurol. 2015 Mar; 72(3):259-60.
    View in: PubMed
    Score: 0.022
  52. Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice. Hum Mol Genet. 2015 Apr 01; 24(7):1813-23.
    View in: PubMed
    Score: 0.022
  53. Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Elife. 2014 Jun 26; 3.
    View in: PubMed
    Score: 0.021
  54. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 2013 Nov 07; 503(7474):72-7.
    View in: PubMed
    Score: 0.020
  55. RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1. Nature. 2013 Jun 20; 498(7454):325-331.
    View in: PubMed
    Score: 0.020
  56. An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell. 2013 Feb 28; 152(5):984-96.
    View in: PubMed
    Score: 0.020
  57. Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood. Neuron. 2012 Sep 06; 75(5):799-809.
    View in: PubMed
    Score: 0.019
  58. Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol. 2012 Mar 01; 4(3).
    View in: PubMed
    Score: 0.018
  59. MeCP2: only 100% will do. Nat Neurosci. 2012 Jan 26; 15(2):176-7.
    View in: PubMed
    Score: 0.018
  60. Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nat Genet. 2012 Jan 08; 44(2):206-11.
    View in: PubMed
    Score: 0.018
  61. Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua. Science. 2011 Nov 04; 334(6056):690-3.
    View in: PubMed
    Score: 0.018
  62. ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization. Dev Cell. 2011 Oct 18; 21(4):746-57.
    View in: PubMed
    Score: 0.018
  63. Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med. 2011 Jun 08; 3(86):86ra49.
    View in: PubMed
    Score: 0.017
  64. Adult neural function requires MeCP2. Science. 2011 Jul 08; 333(6039):186.
    View in: PubMed
    Score: 0.017
  65. In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development. Proc Natl Acad Sci U S A. 2011 Feb 22; 108(8):3288-93.
    View in: PubMed
    Score: 0.017
  66. Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration. Proc Natl Acad Sci U S A. 2011 Feb 01; 108(5):2142-7.
    View in: PubMed
    Score: 0.017
  67. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 2010 Nov 11; 468(7321):263-9.
    View in: PubMed
    Score: 0.017
  68. Neurogenetics: advancing the "next-generation" of brain research. Neuron. 2010 Oct 21; 68(2):165-73.
    View in: PubMed
    Score: 0.017
  69. Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet. 2010 Jul 08; 6(7):e1001021.
    View in: PubMed
    Score: 0.016
  70. Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1. Proc Natl Acad Sci U S A. 2009 Dec 29; 106(52):22462-7.
    View in: PubMed
    Score: 0.016
  71. Deletion of Atoh1 disrupts Sonic Hedgehog signaling in the developing cerebellum and prevents medulloblastoma. Science. 2009 Dec 04; 326(5958):1424-7.
    View in: PubMed
    Score: 0.016
  72. Math1 is essential for the development of hindbrain neurons critical for perinatal breathing. Neuron. 2009 Nov 12; 64(3):341-54.
    View in: PubMed
    Score: 0.016
  73. Atoh1-lineal neurons are required for hearing and for the survival of neurons in the spiral ganglion and brainstem accessory auditory nuclei. J Neurosci. 2009 Sep 09; 29(36):11123-33.
    View in: PubMed
    Score: 0.015
  74. Merkel cells are essential for light-touch responses. Science. 2009 Jun 19; 324(5934):1580-2.
    View in: PubMed
    Score: 0.015
  75. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet. 2009 Jul 01; 18(13):2431-42.
    View in: PubMed
    Score: 0.015
  76. The yin and yang of MeCP2 phosphorylation. Proc Natl Acad Sci U S A. 2009 Mar 24; 106(12):4577-8.
    View in: PubMed
    Score: 0.015
  77. Rett syndrome: what do we know for sure? Nat Neurosci. 2009 Mar; 12(3):239-40.
    View in: PubMed
    Score: 0.015
  78. Identification and subclassification of new Atoh1 derived cell populations during mouse spinal cord development. Dev Biol. 2009 Mar 15; 327(2):339-51.
    View in: PubMed
    Score: 0.015
  79. Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1. J Biol Chem. 2009 Mar 20; 284(12):7425-9.
    View in: PubMed
    Score: 0.014
  80. Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature. 2008 Oct 16; 455(7215):912-8.
    View in: PubMed
    Score: 0.014
  81. Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron. 2008 Sep 25; 59(6):947-58.
    View in: PubMed
    Score: 0.014
  82. miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis. Nat Neurosci. 2008 Oct; 11(10):1137-9.
    View in: PubMed
    Score: 0.014
  83. Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11987-92.
    View in: PubMed
    Score: 0.014
  84. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008 May 30; 320(5880):1224-9.
    View in: PubMed
    Score: 0.014
  85. Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature. 2008 Apr 10; 452(7188):713-8.
    View in: PubMed
    Score: 0.014
  86. The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proc Natl Acad Sci U S A. 2008 Jan 29; 105(4):1291-6.
    View in: PubMed
    Score: 0.014
  87. The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 08; 56(3):422-37.
    View in: PubMed
    Score: 0.014
  88. The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci U S A. 2007 Sep 25; 104(39):15382-7.
    View in: PubMed
    Score: 0.013
  89. Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model. PLoS Med. 2007 May; 4(5):e182.
    View in: PubMed
    Score: 0.013
  90. Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis. Gastroenterology. 2007 Jun; 132(7):2478-88.
    View in: PubMed
    Score: 0.013
  91. Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes. Nat Genet. 2007 Mar; 39(3):373-9.
    View in: PubMed
    Score: 0.013
  92. Trinucleotide repeat disorders. Annu Rev Neurosci. 2007; 30:575-621.
    View in: PubMed
    Score: 0.013
  93. ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell. 2006 Dec 29; 127(7):1335-47.
    View in: PubMed
    Score: 0.013
  94. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2006 Nov 28; 103(48):18267-72.
    View in: PubMed
    Score: 0.013
  95. Huntingtin's critical cleavage. Nat Neurosci. 2006 Sep; 9(9):1088-9.
    View in: PubMed
    Score: 0.012
  96. Getting back to basics. Cell. 2006 Jul 14; 126(1):11-5.
    View in: PubMed
    Score: 0.012
  97. MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev. 2006 Jun; 16(3):276-81.
    View in: PubMed
    Score: 0.012
  98. Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci. 2006 Jan 04; 26(1):319-27.
    View in: PubMed
    Score: 0.012
  99. SILencing misbehaving proteins. Nat Genet. 2005 Dec; 37(12):1302-3.
    View in: PubMed
    Score: 0.012
  100. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci U S A. 2005 Dec 06; 102(49):17551-8.
    View in: PubMed
    Score: 0.012
  101. Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation. Genes Dev. 2005 Oct 15; 19(20):2412-7.
    View in: PubMed
    Score: 0.012
  102. Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum. Neuron. 2005 Oct 06; 48(1):31-43.
    View in: PubMed
    Score: 0.012
  103. MeCP2 dysfunction in humans and mice. J Child Neurol. 2005 Sep; 20(9):736-40.
    View in: PubMed
    Score: 0.012
  104. The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell. 2005 Aug 26; 122(4):633-44.
    View in: PubMed
    Score: 0.012
  105. Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin-proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation. Hum Mol Genet. 2005 Mar 01; 14(5):679-91.
    View in: PubMed
    Score: 0.011
  106. Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet. 2005 Jan 15; 14(2):205-20.
    View in: PubMed
    Score: 0.011
  107. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004 Nov 01; 13(21):2679-89.
    View in: PubMed
    Score: 0.011
  108. Generation and characterization of LANP/pp32 null mice. Mol Cell Biol. 2004 Apr; 24(8):3140-9.
    View in: PubMed
    Score: 0.011
  109. Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr; 10(2):118-28.
    View in: PubMed
    Score: 0.011
  110. X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. Am J Hum Genet. 2004 Mar; 74(3):511-20.
    View in: PubMed
    Score: 0.010
  111. Longitudinal single-cell transcriptional dynamics throughout neurodegeneration in SCA1. Neuron. 2024 Feb 07; 112(3):362-383.e15.
    View in: PubMed
    Score: 0.010
  112. Postnatal neurodevelopmental disorders: meeting at the synapse? Science. 2003 Oct 31; 302(5646):826-30.
    View in: PubMed
    Score: 0.010
  113. Molecular neuroscience: BAC-to-BAC images of the brain. Nature. 2003 Oct 30; 425(6961):907-8.
    View in: PubMed
    Score: 0.010
  114. Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. Hum Mol Genet. 2003 Nov 01; 12(21):2789-95.
    View in: PubMed
    Score: 0.010
  115. Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesis. J Biol Chem. 2003 Sep 05; 278(36):34691-9.
    View in: PubMed
    Score: 0.010
  116. Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell. 2003 May 16; 113(4):457-68.
    View in: PubMed
    Score: 0.010
  117. Mice lacking Tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memory. Mol Cell Neurosci. 2003 May; 23(1):1-12.
    View in: PubMed
    Score: 0.010
  118. Modelling brain diseases in mice: the challenges of design and analysis. Nat Rev Genet. 2003 Apr; 4(4):296-307.
    View in: PubMed
    Score: 0.010
  119. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron. 2003 Feb 06; 37(3):383-401.
    View in: PubMed
    Score: 0.010
  120. Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles. Neuron. 2023 02 15; 111(4):493-507.e6.
    View in: PubMed
    Score: 0.010
  121. Mouse and fly models of neurodegeneration. Trends Genet. 2002 Sep; 18(9):463-71.
    View in: PubMed
    Score: 0.009
  122. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002 Jul 18; 35(2):243-54.
    View in: PubMed
    Score: 0.009
  123. Prenylcysteine carboxylmethyltransferase is essential for the earliest stages of liver development in mice. Gastroenterology. 2002 Jul; 123(1):345-51.
    View in: PubMed
    Score: 0.009
  124. A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration. Neuron. 2002 Jun 13; 34(6):905-19.
    View in: PubMed
    Score: 0.009
  125. Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center. Int J Dev Neurosci. 2002 Jun-Aug; 20(3-5):467-8.
    View in: PubMed
    Score: 0.009
  126. Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders. Proc Natl Acad Sci U S A. 2022 01 25; 119(4).
    View in: PubMed
    Score: 0.009
  127. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet. 2002 Jan 15; 11(2):115-24.
    View in: PubMed
    Score: 0.009
  128. Maturation of Purkinje cell firing properties relies on neurogenesis of excitatory neurons. Elife. 2021 09 20; 10.
    View in: PubMed
    Score: 0.009
  129. Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism. eNeuro. 2021 Jul-Aug; 8(4).
    View in: PubMed
    Score: 0.009
  130. Excessive Formation and Stabilization of Dendritic Spine Clusters in the MECP2-Duplication Syndrome Mouse Model of Autism. eNeuro. 2021 Jan-Feb; 8(1).
    View in: PubMed
    Score: 0.008
  131. PolyA-miner: accurate assessment of differential alternative poly-adenylation from 3'Seq data using vector projections and non-negative matrix factorization. Nucleic Acids Res. 2020 07 09; 48(12):e69.
    View in: PubMed
    Score: 0.008
  132. Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Hum Mol Genet. 2020 03 27; 29(5):705-715.
    View in: PubMed
    Score: 0.008
  133. Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy. Elife. 2020 02 19; 9.
    View in: PubMed
    Score: 0.008
  134. Optimizing Nervous System-Specific Gene Targeting with Cre Driver Lines: Prevalence of Germline Recombination and Influencing Factors. Neuron. 2020 04 08; 106(1):37-65.e5.
    View in: PubMed
    Score: 0.008
  135. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. 2020 02 01; 29(3):459-470.
    View in: PubMed
    Score: 0.008
  136. Doublecortin-like Kinase 1 Regulates a-Synuclein Levels and Toxicity. J Neurosci. 2020 01 08; 40(2):459-477.
    View in: PubMed
    Score: 0.008
  137. Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex. eNeuro. 2019 Nov/Dec; 6(6).
    View in: PubMed
    Score: 0.008
  138. Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription. Cell. 2019 08 22; 178(5):1159-1175.e17.
    View in: PubMed
    Score: 0.008
  139. Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease. Hum Mol Genet. 2019 06 15; 28(12):2014-2029.
    View in: PubMed
    Score: 0.008
  140. Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles. JCI Insight. 2018 11 02; 3(21).
    View in: PubMed
    Score: 0.007
  141. A Druggable Genome Screen Identifies Modifiers of a-Synuclein Levels via a Tiered Cross-Species Validation Approach. J Neurosci. 2018 10 24; 38(43):9286-9301.
    View in: PubMed
    Score: 0.007
  142. Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations. Nat Commun. 2018 08 13; 9(1):3225.
    View in: PubMed
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  150. An Anatomically Resolved Mouse Brain Proteome Reveals Parkinson Disease-relevant Pathways. Mol Cell Proteomics. 2017 04; 16(4):581-593.
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  168. Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model. Hum Mol Genet. 2012 Jan 15; 21(2):394-405.
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  170. In vivo neuronal subtype-specific targets of Atoh1 (Math1) in dorsal spinal cord. J Neurosci. 2011 Jul 27; 31(30):10859-71.
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  171. Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model. Hum Mol Genet. 2011 Jun 01; 20(11):2204-12.
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  172. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Hum Mol Genet. 2011 Feb 01; 20(3):510-27.
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  180. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron. 2007 Oct 04; 56(1):58-65.
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  182. The role of LANP and ataxin 1 in E4F-mediated transcriptional repression. EMBO Rep. 2007 Jul; 8(7):671-7.
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  185. CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation. J Biol Chem. 2006 Sep 08; 281(36):26714-24.
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  186. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell. 2006 May 19; 125(4):801-14.
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  187. Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS Biol. 2006 Mar; 4(3):e67.
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  189. The DNA sequence of the human X chromosome. Nature. 2005 Mar 17; 434(7031):325-37.
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  193. Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice. Hum Mol Genet. 2004 Oct 15; 13(20):2535-43.
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  194. The effects of the polyglutamine repeat protein ataxin-1 on the UbL-UBA protein A1Up. J Biol Chem. 2004 Oct 01; 279(40):42290-301.
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  195. Aberrant myofibril assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethality. J Cell Biol. 2003 Dec 08; 163(5):1033-44.
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  196. A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol Cell. 2003 Aug; 12(2):425-35.
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  198. Dissection of the cellular and molecular events that position cerebellar Purkinje cells: a study of the math1 null-mutant mouse. J Neurosci. 2002 Sep 15; 22(18):8110-6.
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  199. Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci. 2002 Apr 01; 22(7):2753-63.
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  200. Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice. Neuromolecular Med. 2002; 1(1):33-42.
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