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Genomes and GenesSpecies | Huda ZoghbiSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Publications
Glutamine repeats and neurodegenerationH Y Zoghbi
Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA
Annu Rev Neurosci 23:217-47. 2000..The review concludes with a model for pathogenesis that illuminates the unifying features of these polyglutamine disorders. This model may prove relevant to other neurodegenerative disorders as well...- Neurobiology of diseaseH Y Zoghbi
Howard Hughes Medical Institute and Baylor College of Medicine, One Baylor Plaza MS225, Houston, Texas 77030, USA
Curr Opin Neurobiol 10:655-60. 2000..Here, we discuss three areas that have had great impact: genetics, cell death, and stem cell/gene therapy research... - 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... - Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research CenterHuda Y Zoghbi
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Int J Dev Neurosci 20:467-8. 2002 - Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3Mona Shahbazian
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Neuron 35:243-54. 2002.... - Rett syndrome: a prototypical neurodevelopmental disorderJeffrey 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... - Rett syndrome and MeCP2: linking epigenetics and neuronal functionMona D Shahbazian
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 71:1259-72. 2002 - Failure of neuronal homeostasis results in common neuropsychiatric phenotypesMelissa 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... - X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndromeJuan 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... - Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturationMona 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... - Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypesHsiao 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... - Mild overexpression of MeCP2 causes a progressive neurological disorder in miceAnn 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... - MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse numberHsiao Tuan Chao
Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
Neuron 56:58-65. 2007.... - Genetic basis of Rett syndromeIgnatia 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... - Prenylcysteine carboxylmethyltransferase is essential for the earliest stages of liver development in miceXi Lin
Howard Hughes Medical Institute, Baylor College of Medicine, Houston, Texas 77030, USA
Gastroenterology 123:345-51. 2002..We investigated the function of Pccmt during mouse liver development to better understand the embryonic lethality of the null mutation... - SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticitySeung 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)... - The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitorsAdriano 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.... - Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndromePaolo 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... - Introduction: Rett syndromeHuda 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 - MeCP2, a key contributor to neurological disease, activates and represses transcriptionMaria 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... - Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out miceYanghong Gu
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
J Neurosci 22:2753-63. 2002..Thus, although a number of studies have suggested that diminished LTP is associated with memory impairment, our data suggest that increased LTP may be a mechanism that leads to impaired cognitive processing as well... - The story of Rett syndrome: from clinic to neurobiologyMaria 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... - Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellumVincent Y Wang
Program in Developmental Biology, Baylor College of Medicine, Houston, Texas 77030, USA
Neuron 48:31-43. 2005.... - CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradationIsmael 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... - Neurogenetics: advancing the "next-generation" of brain researchHuda 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... - Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalitiesRodney 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... - Drosophila atonal fully rescues the phenotype of Math1 null mice: new functions evolve in new cellular contextsVincent 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... - The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survivalDeeann 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... - Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1Janghoo 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... - Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela 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... - Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndromeBryan E McGill
Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA
Proc Natl Acad Sci U S A 103:18267-72. 2006.... - Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesisJuan 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... - MeCP2 dysfunction in Rett syndrome and related disordersPaolo Moretti
Baylor College of Medicine, One Baylor Plaza, T807, Mail Stop 225, Houston, TX 77030, USA
Curr Opin Genet Dev 16:276-81. 2006.... - ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathologyYung 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... - Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexesAaron B Bowman
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Nat Genet 39:373-9. 2007.... - Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1Matthew 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... - Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndromeMelissa 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... - Deletion of Atoh1 disrupts Sonic Hedgehog signaling in the developing cerebellum and prevents medulloblastomaAdriano 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... - Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamusShay 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... - Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stressSharyl 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... - miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesisYoontae 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... - Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndromePaolo 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... - 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 formationAaron 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... - Mice lacking Tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memoryPatrick 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... - Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiationNoah 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... - MeCP2 dysfunction in humans and miceHuda Y Zoghbi
Baylor College of Medicine, Houston, TX, USA
J Child Neurol 20:736-40. 2005.... - The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7Jennifer 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... - The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteinsHiroshi 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... - Genetic modifiers of MeCP2 function in DrosophilaHOLLY 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... - Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesisPuneet 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... - Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1Kei 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... - A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndromeRodney 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... - Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2Juan 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... - Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1Hung 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... - Math1 is essential for the development of hindbrain neurons critical for perinatal breathingMatthew 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... - Modelling brain diseases in mice: the challenges of design and analysisKei 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.... - Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndromeSiddharth 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... - Balanced X chromosome inactivation patterns in the Rett syndrome brainMona 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... - A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegenerationKei 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... - Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1Huda 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... - dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1Ismael 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... - Getting back to basicsStephen 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... - Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasisNoah 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... - A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degenerationJanghoo 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... - Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesisMatias Alvarez-Saavedra
Centro de Estudios Cientificos, Valdivia, Chile
Hum Mol Genet 16:2315-25. 2007.... - Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic miceTao 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... - Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunctionDominique Helmlinger
Department of Molecular Pathology, Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, Illkirch, France
PLoS Biol 4:e67. 2006.... - Dissection of the cellular and molecular events that position cerebellar Purkinje cells: a study of the math1 null-mutant mousePatricia 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... - The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determinationPing Chen
Gonda Department of Cell and Molecular Biology, House Ear Institute, Los Angeles, CA 90057, USA
Development 129:2495-505. 2002.... - Huntingtin's critical cleavageJohn D Fryer
Nat Neurosci 9:1088-9. 2006 - SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signalBrigit 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... - Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic miceEffat 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... - Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic miceHeliane 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... - A cell-based screen for modulators of ataxin-1 phosphorylationMichael 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... - The role of LANP and ataxin 1 in E4F-mediated transcriptional repressionMarija 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... - Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channelsKei 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... - Molecular neuroscience: BAC-to-BAC images of the brainHuda Y Zoghbi
Nature 425:907-8. 2003 - The effects of the polyglutamine repeat protein ataxin-1 on the UbL-UBA protein A1UpBrigit 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... - Aberrant myofibril assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethalityKimberly L Fritz-Six
Department of Cell Biology, The Scripps Research Institute, 10550 N Torrey Pines Road, La Jolla, CA 92037, USA
J Cell Biol 163:1033-44. 2003..We conclude that Tmod1 is required for regulation of actin filament lengths and myofibril maturation; this is critical for heart morphogenesis during embryonic development...
Research Grants
- MOLECULAR STUDIES OF SPINOCEREBELLAR ATAXIA TYPE 1Huda Y Zoghbi; Fiscal Year: 2010....
- Elucidating the Roles of SHANK3 and FXR in the Autism InteractomeHuda Y Zoghbi; Fiscal Year: 2010..In this grant, we will characterize some common pathways leading to autism, which would be of public health relevance because our studies will help many types of autism rather than one or two subtypes. ..
- MOLECULAR STUDIES OF SPINOCEREBELLAR ATAXIA TYPE 1Huda Zoghbi; Fiscal Year: 2009..We will thus also pursue preclinical trials targeting the Akt pathway as well as novel pathways revealed by the proposed studies ..
- Molecular Pathogenesis Studies of Rett SyndromeHuda Zoghbi; Fiscal Year: 2009..Last but not least, the data generated under this study have the potential to identify effective pharmacologic interventions that could benefit RTT patients. ..
- Molecular Pathogenesis Studies of Rett SyndromeHuda Y Zoghbi; Fiscal Year: 2010..Last but not least, the data generated under this study have the potential to identify effective pharmacologic interventions that could benefit RTT patients. ..
- Molecular Pathogenesis Studies of Rett SyndromeHuda Zoghbi; Fiscal Year: 2009..Last but not least, the data generated under this study have the potential to identify effective pharmacologic interventions that could benefit RTT patients. ..
- Pathophysiology of Rett Syndrome /MECP2 MutationsHuda Zoghbi; Fiscal Year: 2005..abstract_text> ..
- MOLECULAR STUDIES OF SPINOCEREBELLAR ATAXIA TYPE 1Huda Zoghbi; Fiscal Year: 2004..These studies should enhance our understanding of the pathogenic mechanism in SCA1 and other neurodegenerative disorders caused by polyglutamine expansion. ..
- MOLECULAR STUDIES OF HLA-LINKED SPINOCEREBELLAR ATAXIAHuda Zoghbi; Fiscal Year: 1993..If the SCA1 gene is identified efforts will focus on characterizing the structure and biological function of the SCA1 gene to elucidate the mechanism of pathogenesis in this disease...
- Molecular Pathogenesis Studies of Rett SyndromeHuda Y Zoghbi; Fiscal Year: 2010..Last but not least, the data generated under this study have the potential to identify effective pharmacologic interventions that could benefit RTT patients. ..