Huda Y Zoghbi

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. ncbi request reprint MeCP2 dysfunction in humans and mice
    Huda Y Zoghbi
    Baylor College of Medicine, Houston, TX, USA
    J Child Neurol 20:736-40. 2005
  2. pmc Neurogenetics: advancing the "next-generation" of brain research
    Huda Y Zoghbi
    Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 68:165-73. 2010
  3. ncbi request reprint Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes
    Aaron B Bowman
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 39:373-9. 2007
  4. pmc Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1
    Janghoo Lim
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 452:713-8. 2008
  5. ncbi request reprint The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins
    Hiroshi Tsuda
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Cell 122:633-44. 2005
  6. pmc Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
    Hsiao Tuan Chao
    Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 468:263-9. 2010
  7. pmc The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7
    Jennifer R Gatchel
    Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 105:1291-6. 2008
  8. pmc Math1 is essential for the development of hindbrain neurons critical for perinatal breathing
    Matthew F Rose
    Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 64:341-54. 2009
  9. pmc ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization
    Yoontae Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Dev Cell 21:746-57. 2011
  10. pmc dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1
    Ismael Al-Ramahi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 3:e234. 2007

Collaborators

Detail Information

Publications99

  1. ncbi request reprint MeCP2 dysfunction in humans and mice
    Huda Y Zoghbi
    Baylor College of Medicine, Houston, TX, USA
    J Child Neurol 20:736-40. 2005
    ....
  2. pmc Neurogenetics: advancing the "next-generation" of brain research
    Huda Y Zoghbi
    Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 68:165-73. 2010
    ..In this Overview of Neuron's special review issue on neurogenetics, we reflect on progress made over the last two decades and highlight the challenges as well as the exciting opportunities for the future...
  3. ncbi request reprint Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes
    Aaron B Bowman
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 39:373-9. 2007
    ....
  4. pmc Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1
    Janghoo Lim
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 452:713-8. 2008
    ..This model provides mechanistic insight into the molecular pathogenesis of SCA1 as well as other polyglutamine diseases...
  5. ncbi request reprint The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins
    Hiroshi Tsuda
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Cell 122:633-44. 2005
    ..Interestingly, loss of Gfi-1 mimics SCA1 phenotypes in Purkinje cells. These results indicate that the Atx-1/Gfi-1 interaction contributes to the selective Purkinje cell degeneration in SCA1...
  6. pmc Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
    Hsiao Tuan Chao
    Department of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 468:263-9. 2010
    ..These data demonstrate that MeCP2 is critical for normal function of GABA-releasing neurons and that subtle dysfunction of GABAergic neurons contributes to numerous neuropsychiatric phenotypes...
  7. pmc The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7
    Jennifer R Gatchel
    Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 105:1291-6. 2008
    ..These data define one common pathogenic response in SCA1 and SCA7 and reveal the importance of intercellular mechanisms in their pathogenesis...
  8. pmc Math1 is essential for the development of hindbrain neurons critical for perinatal breathing
    Matthew F Rose
    Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 64:341-54. 2009
    ..This study identifies Math1-dependent neurons that are critical for perinatal breathing that may link proprioception and arousal with respiration...
  9. pmc ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization
    Yoontae Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Dev Cell 21:746-57. 2011
    ..These findings demonstrate a critical role of ATXN1/ATXN1L-CIC complexes in extracellular matrix (ECM) remodeling during development and their potential roles in pathogenesis of disorders affecting ECM remodeling...
  10. pmc dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1
    Ismael Al-Ramahi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 3:e234. 2007
    ..Altogether, these findings reveal a previously unknown functional link between neurodegenerative disorders with common clinical features but different etiology...
  11. ncbi request reprint ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology
    Yung C Lam
    Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 127:1335-47. 2006
    ..These data provide insight into the function of ATXN1 and suggest that SCA1 neuropathology depends on native, not novel, protein interactions...
  12. pmc miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis
    Yoontae Lee
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Neurosci 11:1137-9. 2008
    ..We provide a new candidate mechanism for modulating the pathogenesis of neurodegenerative diseases sensitive to protein dosage...
  13. pmc Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis
    Juan Crespo-Barreto
    Interdepartmental Program in Cell and Molecular Biology, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 6:e1001021. 2010
    ..Altogether, these data provide evidence that partial loss of Atxn1 function contributes to SCA1 pathogenesis and raise the possibility that loss-of-function mechanisms contribute to other dominantly inherited neurodegenerative diseases...
  14. pmc A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome
    Rodney C Samaco
    Department of Molecular and Human Genetics, Houston, TX 77030, USA
    Hum Mol Genet 17:1718-27. 2008
    ..These results indicate that precise control of MeCP2 is critical for normal behavior and predict that human neurodevelopmental disorders will result from a subtle reduction in MeCP2 expression...
  15. pmc Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum
    Blake A Ebner
    Institute of Translational Neuroscience, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Neurosci 33:5806-20. 2013
    ..Thus, the results also show that to develop progressive cerebellar degeneration requires expressing ATXN1 with an expanded polyglutamine tract...
  16. pmc Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua
    John D Fryer
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Science 334:690-3. 2011
    ..Thus, exercise might have long-term beneficial effects in other ataxias and neurodegenerative diseases...
  17. ncbi request reprint Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum
    Vincent Y Wang
    Program in Developmental Biology, Baylor College of Medicine, Houston, Texas 77030, USA
    Neuron 48:31-43. 2005
    ....
  18. ncbi request reprint CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation
    Ismael Al-Ramahi
    Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA
    J Biol Chem 281:26714-24. 2006
    ..These data underscore the importance of the protein framework for modulating the effects of polyglutamine-induced neurodegeneration...
  19. pmc Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery
    Juliette J Kahle
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 9:e1003359. 2013
    ..Our data suggest a heretofore unappreciated similarity between regulatory modules in the brain and HSCs, offering a new strategy for novel gene discovery in both systems...
  20. pmc Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood
    Wei Hsiang Huang
    Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 75:799-809. 2012
    ..These results provide insights into the genetic regulation of neonatal breathing and shed light on the labile sites that might contribute to sudden death in newborn infants and altered chemoresponsiveness in adults...
  21. pmc Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
    Shay Ben-Shachar
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 18:2431-42. 2009
    ..Further delineation of the expression pattern of MeCP2 target genes throughout the brain might identify subsets of genes that are more amenable to manipulation, and can thus be used to modulate some of the disease phenotypes...
  22. ncbi request reprint Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
    Ann L Collins
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 13:2679-89. 2004
    ..Furthermore, these results support the possibility that duplications or gain-of-function mutations in MECP2 might underlie some cases of X-linked delayed-onset neurobehavioral disorders...
  23. ncbi request reprint Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome
    Paolo Moretti
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Neurosci 26:319-27. 2006
    ..These data demonstrate a requirement for MeCP2 in learning and memory and suggest that functional and ultrastructural synaptic dysfunction is an early event in the pathogenesis of RTT...
  24. pmc MeCP2, a key contributor to neurological disease, activates and represses transcription
    Maria Chahrour
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Science 320:1224-9. 2008
    ..These studies suggest that MeCP2 regulates the expression of a wide range of genes in the hypothalamus and that it can function as both an activator and a repressor of transcription...
  25. pmc The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors
    Adriano Flora
    Howard Hughes Medical Institute, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 104:15382-7. 2007
    ....
  26. pmc Generation and characterization of LANP/pp32 null mice
    Puneet Opal
    Department of Neurology, Baylor College of Medicine, Houston, Texas, USA
    Mol Cell Biol 24:3140-9. 2004
    ..Overall our results point to a functional redundancy of LANP's function, most likely provided by its closely related family members...
  27. pmc Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
    Rodney C Samaco
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 106:21966-71. 2009
    ..These data support a cell-autonomous, MeCP2-dependent mechanism for the regulation of aminergic neurotransmitter synthesis contributing to unique behavioral phenotypes...
  28. pmc Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome
    Rodney C Samaco
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 44:206-11. 2012
    ..These data indicate that increased MeCP2 levels affect molecular pathways underlying anxiety and social behavior and provide new insight into potential therapies for MECP2-related disorders...
  29. pmc Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia
    Juliette J Kahle
    Department of Cellular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 20:510-27. 2011
    ..Together these data reveal novel protein interactions and suggest potential pathways that can contribute to the pathophysiology of ataxia, MD, and diseases comorbid with ataxia...
  30. pmc Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress
    Sharyl L Fyffe
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 59:947-58. 2008
    ..This study demonstrates that deleting Mecp2 in a defined brain region is an excellent approach to map the neuronal origins of complex behaviors and provides new insight about the function of MeCP2 in specific neurons...
  31. pmc Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2
    Juan I Young
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 102:17551-8. 2005
    ..Thus, we uncovered a previously uncharacterized function of MeCP2 that involves regulation of splicing, in addition to its role as a transcriptional repressor...
  32. pmc Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome
    Melissa B Ramocki
    Section of Child Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    Ann Neurol 66:771-82. 2009
    ..This study characterizes the clinical and neuropsychiatric phenotypes of affected boys and carrier females...
  33. pmc Identification and subclassification of new Atoh1 derived cell populations during mouse spinal cord development
    George R Miesegaes
    Program in Cell and Molecular Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Dev Biol 327:339-51. 2009
    ..Altogether we reveal the existence of multiple Atoh1 dependent cell types in the spinal cord, and uncover a novel progenitor domain that arises late in development...
  34. pmc Deletion of Atoh1 disrupts Sonic Hedgehog signaling in the developing cerebellum and prevents medulloblastoma
    Adriano Flora
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Science 326:1424-7. 2009
    ..Our data shed light on the function of Atoh1 in postnatal cerebellar development and identify a new mechanism that can be targeted to regulate medulloblastoma formation...
  35. doi request reprint SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties
    Kihoon Han
    1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA 2 Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA 3 Jan and Dan Duncan Neurological Research Institute at Texas Children s Hospital, Houston, Texas 77030, USA
    Nature 503:72-7. 2013
    ..The mood-stabilizing drug valproate, but not lithium, rescues the manic-like behaviour of Shank3 transgenic mice raising the possibility that this hyperkinetic disorder has a unique pharmacogenetic profile. ..
  36. pmc Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration
    Paymaan Jafar-Nejad
    Department of Molecular and Human Genetics, and Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 108:2142-7. 2011
    ..These data suggest that distinct pathogenic mechanisms operate in different vulnerable brain regions, adding another level of complexity to SCA1 pathogenesis...
  37. pmc In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development
    Tiemo J Klisch
    Department of Molecular and Human Genetics, The Howard Hughes Medical Institute, The Dan L Duncan Cancer Center, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 108:3288-93. 2011
    ..This study expands current thinking about the transcriptional activities driving neuronal differentiation and provides a framework for further neurodevelopmental studies...
  38. pmc MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number
    Hsiao Tuan Chao
    Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 56:58-65. 2007
    ....
  39. doi request reprint RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1
    Jeehye Park
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nature 498:325-31. 2013
    ..Collectively, these data reveal new therapeutic entry points for SCA1 and provide a proof-of-principle for tackling other classes of intractable neurodegenerative diseases...
  40. pmc Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies
    Rodney C Samaco
    Jan and Dan Duncan Neurological Research Institute, Texas Children s Hospital, Houston, TX 77030, USA
    Hum Mol Genet 22:96-109. 2013
    ..These findings provide a framework for pre-clinical studies aimed at improving the constellation of phenotypes in a mouse model of RTT...
  41. ncbi request reprint Rett syndrome: a prototypical neurodevelopmental disorder
    Jeffrey L Neul
    Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Neuroscientist 10:118-28. 2004
    ..Thus, Rett syndrome is a prototype for the genetic, molecular, and neurobiological analysis of neurodevelopmental disorders...
  42. ncbi request reprint Mice lacking Tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memory
    Patrick R Cox
    Division of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Cell Neurosci 23:1-12. 2003
    ..Electrophysiological analysis revealed enhanced LTP in Tmod2(lacZ-/-) mice. These studies suggest that Tmod2 plays a role in behavior, learning, memory, and synaptic plasticity...
  43. ncbi request reprint Postnatal neurodevelopmental disorders: meeting at the synapse?
    Huda Y Zoghbi
    Departments of Pediatrics, Neurology, and Molecular and Human Genetics, Division of Neuroscience, and Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Science 302:826-30. 2003
    ..I propose that both disorders result from disruption of postnatal or experience-dependent synaptic plasticity...
  44. pmc Genetic modifiers of MeCP2 function in Drosophila
    HOLLY N CUKIER
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 4:e1000179. 2008
    ..These findings demonstrate that anatomical and behavioral phenotypes caused by MeCP2 activity can be ameliorated by altering other factors that might be more amenable to manipulation than MeCP2 itself...
  45. pmc X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome
    Juan I Young
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 74:511-20. 2004
    ..These findings also raise the possibility that there are human females who carry mutant MECP2 alleles but are not recognized because their phenotypes are subdued owing to favorable XCI patterns...
  46. ncbi request reprint Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome
    Paolo Moretti
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 14:205-20. 2005
    ..The study of Mecp2(308/Y) mice will allow the identification of the molecular basis of social impairment in RTT and related autistic spectrum disorders...
  47. ncbi request reprint Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1
    Kei Watase
    Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX, USA
    Hum Mol Genet 12:2789-95. 2003
    ..The finding that somatic instability is most pronounced in the striatum of various knock-in models of polyglutamine diseases highlights the role of trans-acting tissue- or cell-specific factors in mediating the instability...
  48. pmc Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1
    Matthew F Rose
    Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 106:22462-7. 2009
    ..In addition, these data provide previously unsuspected genetic and developmental links between proprioception, interoception, hearing, and arousal...
  49. pmc Rett syndrome and MeCP2: linking epigenetics and neuronal function
    Mona D Shahbazian
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 71:1259-72. 2002
  50. ncbi request reprint Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesis
    Puneet Opal
    Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA
    J Biol Chem 278:34691-9. 2003
    ..LANP thus could play a key role in neuronal development and/or neurodegeneration by its interactions with microtubule associated proteins...
  51. pmc Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation
    Noah F Shroyer
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genes Dev 19:2412-7. 2005
    ..We propose a model of intestinal cell fate choice in which beta-catenin and Cdx function upstream of Math1, and lineage-specific genes such as Ngn3 act downstream of Gfi1...
  52. pmc Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses
    Tianshu Yang
    Translational Biology and Molecular Medicine Program, Baylor College of Medicine, Houston, TX 77030, USA
    Sci Transl Med 4:163ra158. 2012
    ..Our findings establish a rational basis for identifying, treating, and preventing infectious complications potentially affecting children with MECP2 duplication...
  53. pmc Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome
    Bryan E McGill
    Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 103:18267-72. 2006
    ....
  54. ncbi request reprint 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
    Aaron B Bowman
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 14:679-91. 2005
    ..Altogether, these data show a protective role against neuronal dysfunction for polyglutamine nuclear inclusions and exclude significant impairment of the UPS as a necessary step for polyglutamine neuropathology...
  55. ncbi request reprint Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome
    Siddharth K Prakash
    Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 11:3237-48. 2002
    ..Through the study of these genetically engineered mice we demonstrate that loss of HCCS causes the male lethality of MLS syndrome...
  56. ncbi request reprint The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival
    Deeann Wallis
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Development 130:221-32. 2003
    ..Hence, Gfi1 is expressed in the developing nervous system, is required for inner ear hair cell differentiation, and its loss causes programmed cell death...
  57. pmc Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p
    Kihoon Han
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Genes Dev 27:485-90. 2013
    ..These data provide insight into the role of miR-483-5p in regulating the levels of MeCP2 and interacting proteins during human fetal development...
  58. pmc Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1
    Huda Y Zoghbi
    Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA
    J Biol Chem 284:7425-9. 2009
    ..Moreover, the finding that other ATXN1 interactions are decreased in disease suggests that the polyglutamine expansion contributes to disease by both a gain-of-function mechanism and partial loss of function...
  59. pmc Adult neural function requires MeCP2
    Christopher M McGraw
    Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA
    Science 333:186. 2011
    ..These findings suggest that therapies for RTT must be maintained throughout life...
  60. ncbi request reprint Modelling brain diseases in mice: the challenges of design and analysis
    Kei Watase
    Department of Molecular and Human Genetics and Howard Hughes Medical Institute, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA
    Nat Rev Genet 4:296-307. 2003
    ....
  61. ncbi request reprint SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity
    Seung Yun Yoo
    Division of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 37:383-401. 2003
    ..These data demonstrate that glutamine expansion stabilizes mutant ataxin-7, provide an explanation for selective neuronal vulnerability, and show that mutant ataxin-7 impairs posttetanic potentiation (PTP)...
  62. pmc Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
    Melissa B Ramocki
    Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience, Baylor College of Medicine, 1 Baylor Plaza, MS 225, BCMT T807, Houston, Texas 77030, USA
    Nature 455:912-8. 2008
    ..Copy-number variation, regulation of gene expression by non-coding RNAs and epigenetic changes are all mechanisms by which altered gene dosage can cause the failure of neuronal homeostasis...
  63. pmc Merkel cells are essential for light-touch responses
    Stephen M Maricich
    Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Science 324:1580-2. 2009
    ..Merkel cells are, therefore, required for the proper encoding of Merkel receptor responses, suggesting that these cells form an indispensible part of the somatosensory system...
  64. ncbi request reprint Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
    Daniela del Gaudio
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Genet Med 8:784-92. 2006
    ..Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occurs in some males manifesting a progressive neurodevelopmental syndrome...
  65. ncbi request reprint Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis
    Noah F Shroyer
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Gastroenterology 132:2478-88. 2007
    ..We hypothesized that Math1 is important in cell fate commitment, and therefore mediates proliferative homeostasis and the adaptive response following intestinal resection in the adult intestine...
  66. ncbi request reprint A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration
    Janghoo Lim
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 125:801-14. 2006
    ..This interactome thus provides a tool for understanding pathogenic mechanisms common for this class of neurodegenerative disorders and for identifying candidate genes for inherited ataxias...
  67. ncbi request reprint Diseases of unstable repeat expansion: mechanisms and common principles
    Jennifer R Gatchel
    Department of Neuroscience, Medical Scientist Training Program, Baylor College of Medicine, 1 Baylor Plaza, Houston, Texas 77030, USA
    Nat Rev Genet 6:743-55. 2005
    ..In all these diseases, the context of the expanded repeat and the abundance, subcellular localization and interactions of the proteins and RNAs that are affected have key roles in disease-specific phenotypes...
  68. pmc Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Nat Genet 43:1074-81. 2011
    ..We propose a mechanism that involves both homology-driven events, via inverted repeats, and microhomologous or nonhomologous events...
  69. ncbi request reprint The story of Rett syndrome: from clinic to neurobiology
    Maria Chahrour
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 56:422-37. 2007
    ..Moreover, deciphering the molecular underpinnings of RTT is likely to contribute to the understanding of the pathogenesis of a broader class of neuropsychiatric disorders...
  70. ncbi request reprint Getting back to basics
    Stephen M Maricich
    Department of Pediatrics, Texas Children s Hospital, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 126:11-5. 2006
    ..They provide insights into pathogenic mechanisms and reveal new pathways that can be exploited in diagnosis and the development of therapeutics...
  71. pmc Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 18:2188-203. 2009
    ....
  72. ncbi request reprint MeCP2 dysfunction in Rett syndrome and related disorders
    Paolo Moretti
    Baylor College of Medicine, One Baylor Plaza, T807, Mail Stop 225, Houston, TX 77030, USA
    Curr Opin Genet Dev 16:276-81. 2006
    ....
  73. ncbi request reprint Solving the autism puzzle a few pieces at a time
    Christian P Schaaf
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 70:806-8. 2011
    ..An accompanying study in this issue (Gilman et al.), presents network analysis implicating these CNVs in neural processes related to synapse development, axon targeting, and neuron motility...
  74. ncbi request reprint Drosophila atonal fully rescues the phenotype of Math1 null mice: new functions evolve in new cellular contexts
    Vincent Y Wang
    Program in Developmental Biology, Baylor College of Medicine, Houston, TX, USA
    Curr Biol 12:1611-6. 2002
    ..We wondered whether ato and Math1 might be more functionally homologous than they appear, so we expressed Math1 in ato mutant flies and ato in Math1 null mice. To our surprise, the two proteins are functionally interchangeable...
  75. pmc Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10
    Tohru Matsuura
    Department of Neurology, Baylor College of Medicine, Houston, TX, USA
    Am J Hum Genet 74:1216-24. 2004
    ....
  76. ncbi request reprint Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center
    Huda Y Zoghbi
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Int J Dev Neurosci 20:467-8. 2002
  77. ncbi request reprint Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation
    Mona D Shahbazian
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 11:115-24. 2002
    ..Our data suggest that MeCP2 may become abundant only once a neuron has reached a certain degree of maturity, and that this may explain some aspects of the RTT phenotype...
  78. ncbi request reprint Genetic basis of Rett syndrome
    Ignatia B Van den Veyver
    Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA
    Ment Retard Dev Disabil Res Rev 8:82-6. 2002
    ..Further research focuses on the pathogenic consequences of these mutations along the hypothesis of loss of transcriptional repression of a small number of genes that are essential for neuronal function in the maturing brain...
  79. ncbi request reprint Introduction: Rett syndrome
    Huda Y Zoghbi
    Department of Pediatrics, Molecular and Human Genetics, Neuroscience, and Neurology, Baylor College of Medicine, Houston, Texas, 77030, USA
    Ment Retard Dev Disabil Res Rev 8:59-60. 2002
  80. ncbi request reprint Balanced X chromosome inactivation patterns in the Rett syndrome brain
    Mona D Shahbazian
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet 111:164-8. 2002
    ..Given the correlation between balanced XCI and classic RTT, these results suggest that a certain percentage of neurons expressing the mutant MECP2 gene may be required for RTT to become manifest...
  81. ncbi request reprint A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration
    Kei Watase
    Department of Molecular and Human Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Neuron 34:905-19. 2002
    ..It appears that those neurons that cannot sequester the mutant protein efficiently and thereby curb its toxicity suffer the worst damage from polyglutamine-induced toxicity...
  82. ncbi request reprint Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1
    Hung Kai Chen
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cell 113:457-68. 2003
    ..Our finding that phosphatidylinositol 3-kinase/Akt signaling and 14-3-3 cooperate to modulate the neurotoxicity of ataxin-1 provides insight into SCA1 pathogenesis and identifies potential targets for therapeutic intervention...
  83. ncbi request reprint Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis
    Matias Alvarez-Saavedra
    Centro de Estudios Cientificos, Valdivia, Chile
    Hum Mol Genet 16:2315-25. 2007
    ....
  84. ncbi request reprint Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice
    Pamela J Skinner
    Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis 55455, USA
    Neuromolecular Med 1:33-42. 2002
    ..Thus, these data suggest that this region of ataxin-1 has a role in disease progression. Furthermore, these results provide evidence that ataxin-1-induced disease initiation and disease progression involve distinct molecular events...
  85. ncbi request reprint The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination
    Ping Chen
    Gonda Department of Cell and Molecular Biology, House Ear Institute, Los Angeles, CA 90057, USA
    Development 129:2495-505. 2002
    ....
  86. ncbi request reprint Dissection of the cellular and molecular events that position cerebellar Purkinje cells: a study of the math1 null-mutant mouse
    Patricia Jensen
    University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA
    J Neurosci 22:8110-6. 2002
    ..This finding demonstrates that Purkinje cell migration is not solely dependent on Reelin signaling from the EGL and is likely caused by Reelin signals emanating from the nuclear transitory zone or the ventricular zone, or both...
  87. pmc The role of LANP and ataxin 1 in E4F-mediated transcriptional repression
    Marija Cvetanovic
    Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA
    EMBO Rep 8:671-7. 2007
    ..These results provide the first functional link, to our knowledge, between LANP and ataxin 1, and indicate a potential mechanism for the transcriptional aberrations observed in SCA1...
  88. ncbi request reprint Huntingtin's critical cleavage
    John D Fryer
    Nat Neurosci 9:1088-9. 2006
  89. pmc Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model
    Kei Watase
    21st Century COE program on Brain Integration and Its Disorders, Tokyo Medical and Dental University, Tokyo, Japan
    PLoS Med 4:e182. 2007
    ....
  90. ncbi request reprint Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice
    Tao Zu
    Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Neurosci 24:8853-61. 2004
    ..Of note, even at a late stage of disease, Purkinje cells retain at least some ability to repair the damage caused by mutant ataxin-1...
  91. ncbi request reprint Molecular neuroscience: BAC-to-BAC images of the brain
    Huda Y Zoghbi
    Nature 425:907-8. 2003
  92. ncbi request reprint Mental retardation: X marks the spot
    Marc C Patterson
    Neurology 61:156-7. 2003
  93. ncbi request reprint The effects of the polyglutamine repeat protein ataxin-1 on the UbL-UBA protein A1Up
    Brigit E Riley
    Department of Biochemistry, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Biol Chem 279:42290-301. 2004
    ..Interestingly, the interaction between A1Up and mutant ataxin-1-(82Q) increased the half-life of A1Up, whereas nonpathogenic wild-type ataxin-1-(30Q) or ataxin-1-(82Q)-A776 did not...
  94. ncbi request reprint Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice
    Effat S Emamian
    Department of Laboratory Medicine and Pathology, University of Minnesota, Mayo Mail Code 206, Minneapolis, MN 55455, USA
    Neuron 38:375-87. 2003
    ..We suggest that S776 of ataxin-1 also has a critical role in SCA1 pathogenesis...
  95. ncbi request reprint A cell-based screen for modulators of ataxin-1 phosphorylation
    Michael D Kaytor
    Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA
    Hum Mol Genet 14:1095-105. 2005
    ..These results provide new molecular tools to aid in elucidating the biological role of ataxin-1 phosphorylation and perhaps provide potential leads toward the development of a therapy for SCA1...
  96. ncbi request reprint SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal
    Brigit E Riley
    Department of Biochemistry, Molecular Biology, Biophysics, Institute of Human Genetics, The University of Minnesota, Minneapolis, MN 55455, USA
    J Biol Chem 280:21942-8. 2005
    ..Lys(16), Lys(194) preceding the polyglutamine tract, Lys(610)/Lys(697) in the C-terminal ataxin high mobility group domain, and Lys(746) all contribute to ataxin-1 SUMOylation...
  97. pmc Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction
    Dominique Helmlinger
    Department of Molecular Pathology, Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, Illkirch, France
    PLoS Biol 4:e67. 2006
    ....
  98. pmc Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels
    Kei Watase
    Twenty First Century Center of Excellence Program on Brain Integration and Its Disorders, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
    Proc Natl Acad Sci U S A 105:11987-92. 2008
    ..The pathogenesis of SCA6 is apparently linked to an age-dependent process accompanied by accumulation of mutant Ca(V)2.1 channels...
  99. ncbi request reprint Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice
    Heliane G Serra
    Department of Laboratory Medicine and Pathology, University of Minnesota, Mayo Mail Code 206, Minneapolis, Minnesota 55455, USA
    Hum Mol Genet 13:2535-43. 2004
    ..Interestingly, five of the genes in this group form a biological cohort centered on glutamate signaling pathways in Purkinje cells...