H. Zoghbi

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Towards a proteome-scale map of the human protein–protein interaction network

S. L. Wong, Lan V. Zhang, Sharyl L. Wong, 2005, Nature.

A Protein–Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration

A. Barabasi, C. Shaw, M. Vidal, 2006, Cell.

Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia

A. Barabasi, C. Shaw, D. Hill, 2010, Human molecular genetics.

The Future of Psychiatric Research: Genomes and Neural Circuits

J. D. Watson, E. Kandel, M. King, 2010, Science.

MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome

Wei Li, Huda Y. Zoghbi, Chad A. Shaw, 2015, Proceedings of the National Academy of Sciences.

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

H. Zoghbi, U. Francke, R. Amir, 1999, Nature Genetics.

Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders

Diana V. Dugas, B. Dawson, C. Shaw, 2011, Science Translational Medicine.

The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract.

H. Zoghbi, H. Orr, S. Yue, 2001, Human molecular genetics.

Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein.

H. Zoghbi, H. Orr, J. Davidson, 2000, Human molecular genetics.

Rapid identification of yeast artificial chromosome clones by matrix pooling and crude lysate PCR.

A. C. Chinault, H. Zoghbi, S. Ledbetter, 1990, Nucleic acids research.

An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders

Angela D. Wilkins, H. Zoghbi, O. Lichtarge, 2013, Cell.

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

H. Zoghbi, D. Glaze, A. Percy, 2008, Neurology.

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

J. Lupski, S. Cheung, H. Zoghbi, 2011, Nature Genetics.

Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS).

A. Ballabio, H. Zoghbi, L. Schaefer, 1996, Genomics.

Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome.

H. Zoghbi, A. McCall, I. B. Van den Veyver, 2002, Human molecular genetics.

Identification of genes that modify ataxin-1-induced neurodegeneration

H. Zoghbi, J. Botas, H. Orr, 2000, Nature.

ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization.

H. Zoghbi, Juliette J. Kahle, H. Orr, 2011, Developmental cell.

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.

H. Zoghbi, R. Amir, 2000, American journal of medical genetics.

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

H. Zoghbi, J. Noebels, D. Armstrong, 2004, Human molecular genetics.

Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.

H. Zoghbi, R. Paylor, P. Moretti, 2005, Human molecular genetics.

MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription

Stephen T. C. Wong, C. Shaw, H. Zoghbi, 2008, Science.

Neuropathology of Rett syndrome.

K. Jellinger, H. Zoghbi, A. Percy, 2005, Journal of child neurology.

Reduction of biogenic amine levels in the Rett syndrome.

H. Zoghbi, V. Riccardi, D. Glaze, 1985, The New England journal of medicine.

Rett's syndrome: Characterization of respiratory patterns and sleep

J. Frost, H. Zoghbi, D. Glaze, 1987, Annals of neurology.

Neuropathology of Rett syndrome.

K. Jellinger, H. Zoghbi, A. Percy, 1988, Acta neuropathologica.

Cerebrospinal fluid biogenic amines and biopterin in rett syndrome

H. Zoghbi, S. Milstien, S. Kaufman, 1989, Annals of neurology.

Neuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia

M. Freedman, D. Stuss, H. Zoghbi, 1994, Neurology.

The CAG/Polyglutamine Tract Diseases: Gene Products and Molecular Pathogenesis

H. Zoghbi, H Y Zoghbi, B. Koshy, 1997, Brain pathology.

Trinucleotide repeat disorders.

Harry T Orr, H. Zoghbi, H. Orr, 2007, Annual review of neuroscience.

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Huda Y. Zoghbi, Arthur L. Beaudet, Harry T. Orr, 1993, Nature Genetics.

Pumilio1 Haploinsufficiency Leads to SCA1-like Neurodegeneration by Increasing Wild-Type Ataxin1 Levels

Joshua J. White, T. Cooper, H. Zoghbi, 2015, Cell.

Prenylcysteine carboxylmethyltransferase is essential for the earliest stages of liver development in mice.

H. Zoghbi, Joonil Jung, K. Zaret, 2002, Gastroenterology.

miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis

Christina Thaller, Harry T Orr, Rodney C Samaco, 2008, Nature Neuroscience.

In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development

H. Zoghbi, Wei Li, Y. Xi, 2011, Proceedings of the National Academy of Sciences.

α-synuclein—a link between Parkinson and Alzheimer diseases?

H. Zoghbi, Nathan Heintz, 1997, Nature Genetics.

Phosphorylation of ATXN1 at Ser776 in the cerebellum

H. Zoghbi, H. Orr, P. Jafar-Nejad, 2009, Journal of neurochemistry.

Math1 Expression Redefines the Rhombic Lip Derivatives and Reveals Novel Lineages within the Brainstem and Cerebellum

H. Zoghbi, Matthew F. Rose, Matthew F Rose, 2005, Neuron.

Optimizing Nervous System-Specific Gene Targeting with Cre Driver Lines: Prevalence of Germline Recombination and Influencing Factors

J. N. Kay, Kevin T. Beier, L. Luo, 2020, Neuron.

Mouse models as a tool for discovering new neurological diseases

H. Zoghbi, Qiumin Tan, 2019, Neurobiology of Learning and Memory.

The AXH Domain of Ataxin-1 Mediates Neurodegeneration through Its Interaction with Gfi-1/Senseless Proteins

Juan Botas, Hugo J. Bellen, Huda Y. Zoghbi, 2005, Cell.

Structural basis of protein complex formation and reconfiguration by polyglutamine disease protein Ataxin-1 and Capicua.

H. Zoghbi, Ji-Joon Song, Eunji Kim, 2013, Genes & development.

by polyglutamine disease protein Ataxin-1 and Capicua Structural basis of protein complex formation and reconfiguration Material Supplemental

H. Zoghbi, Ji-Joon Song, Eunji Kim, 2013 .

Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model

H. Zoghbi, H. Orr, L. Duvick, 2011, Human molecular genetics.

Generation of a Mouse Model for Arginase II Deficiency by Targeted Disruption of the Arginase II Gene

H. Zoghbi, W. O'Brien, C. Porter, 2001, Molecular and Cellular Biology.

Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22.

H. Zoghbi, A. Baldini, I. B. Van den Veyver, 1998, Genomics.

Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10

H. Zoghbi, T. Ashizawa, S. Raskin, 2010, PLoS genetics.

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.

H. Zoghbi, N. Dantuma, Aaron B. Bowman, 2005, Human molecular genetics.

The Effects of the Polyglutamine Repeat Protein Ataxin-1 on the UbL-UBA Protein A1Up*

H. Zoghbi, H. Orr, B. Riley, 2004, Journal of Biological Chemistry.

An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3.

J. Weissenbach, D. Schlessinger, G. Borsani, 1995, Human molecular genetics.

Assignment of an intron-containing human heat-shock protein gene (hsp90 beta, HSPCB) to chromosome 6 near TCTE1 (6p21) and two intronless pseudogenes to chromosomes 4 and 15 by polymerase chain reaction amplification from a panel of hybrid cell lines.

D. Maglott, H. Zoghbi, W. Nierman, 1993, Genomics.

Title: Doublecortin like kinase 1 regulates  -Synuclein levels and

Maxime W. C. Rousseaux, H. Zoghbi, M. Wood, 2020 .

Trinucleotide repeat disorders.

H. Zoghbi, H. Orr, 2007, Annual review of neuroscience.

Insufficient Evidence for “Autism-Specific” Genes

E. Eichler, D. Ledbetter, W. Chung, 2020, American journal of human genetics.

The structural genes, MEP1A and MEP1B, for the alpha and beta subunits of the metalloendopeptidase meprin map to human chromosomes 6p and 18q, respectively.

H. Zoghbi, W. Jiang, J. Overhauser, 1995, Genomics.

The organ of Corti, the sensory organ responsible for hearing in mammals, differentiates within the cochlear epithelium to produce a complex array of sensory hair cells and non-sensory supporting cells whose organization is crucial for normal ear

H. Zoghbi, Ping Chen, N. Segil, 2002 .

Pontocerebellar Hypoplasia: Review of Classification and Genetics, and Exclusion of Several Genes Known to Be Important for Cerebellar Development

H. Zoghbi, D. Chitayat, S. Maricich, 2011, Journal of child neurology.

The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.

A. C. Chinault, A. Ballabio, H. Zoghbi, 1993, Human molecular genetics.

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

William B. Dobyns, Huda Y. Zoghbi, Tetsuo Ashizawa, 1997, Nature Genetics.

Pathogenesis of polyglutamine-induced disease: A model for SCA1.

H. Zoghbi, H. Orr, I. Klement, 1999, Molecular genetics and metabolism.

The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia

H. Zoghbi, S. Bohlega, D. Lorenzetti, 1997, Neurology.

Bidirectional control of airway responsiveness by endogenous cannabinoids.

H. Zoghbi, J. Botas, H. Orr, 2000 .

A Structural Study of the Cytoplasmic Chaperone Effect of 14-3-3 Proteins on Ataxin-1

H. Zoghbi, C. Ottmann, Carolyn J. Adamski, 2021, Journal of molecular biology.

MECP2 Mutations in People without Rett Syndrome

H. Zoghbi, D. Glaze, B. Suter, 2014 .

Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus.

H. Zoghbi, H. Orr, M. Matzuk, 2000, Human molecular genetics.

Lithium Therapy Improves Neurological Function and Hippocampal Dendritic Arborization in a Spinocerebellar Ataxia Type 1 Mouse Model

C. Shaw, H. Zoghbi, E. Emamian, 2007, PLoS Medicine.

Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb.

A. C. Chinault, H. Zoghbi, H. Orr, 1993, Genomics.

Physical and genetic mapping of the telomeric major histocompatibility complex region in man and relevance to the primary hemochromatosis gene (HFE).

H. Zoghbi, S. Weissman, J. Gruen, 1992, Genomics.

A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos.

H. Zoghbi, R. Meehan, I. Stancheva, 2003, Molecular cell.

Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome

H. Zoghbi, I. V. D. Veyver, 2001, Brain & development (Tokyo. 1979).

Prognostic value of plasma hormonal disturbances in adult multi-trauma patients without traumatic brain injury. A prospective research study

H. Zoghbi, D. Damaskos, S. Ioannou, 2016, Hellenic Journal of Surgery.

Human homologs of two testes-expressed loci on mouse chromosome 17 map to opposite arms of chromosome 6.

P. Goodfellow, H. Zoghbi, L. Silver, 1989, Genomics.

Generation and Characterization of LANP/pp32 Null Mice

H. Zoghbi, J. Sweatt, E. Weeber, 2004, Molecular and Cellular Biology.

Generation and Characterization of LANP / pp 32 Null Mice

H. Zoghbi, J. Sweatt, E. Weeber, 2004 .

Methyl-CpG-binding protein 2 mutations in Rett syndrome.

H. Zoghbi, I. B. Van den Veyver, Van den Veyver Ib, 2000, Current opinion in genetics & development.

The expanding world of ataxins

H. Zoghbi, 1996, Nature Genetics.

Rett Syndrome and the Ongoing Legacy of Close Clinical Observation

H. Zoghbi, 2016, Cell.

The Basics of Translation

H. Zoghbi, 2013, Science.

Correction for Chen et al., MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome

C. Shaw, H. Zoghbi, Laura A Lavery, 2015, Proceedings of the National Academy of Sciences.

Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods

Lora J. H. Bean, H. Zoghbi, Soma Das, 2021, Human mutation.

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.

Mark F Bear, M. Bear, H. Zoghbi, 2012, Cold Spring Harbor perspectives in biology.

Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in SCA1 transgenic mice.

W. N. Ross, H. Zoghbi, H. Orr, 2001, Journal of neurophysiology.

Rett syndrome: what do we know for sure?

H. Zoghbi, 2009, Nature Neuroscience.

Extensive DNA Polymorphism at the Factor XiIla ( F I 3 A ) Locus and Linkage to HLA

A. Beaudet, H. Zoghbi, W. O'Brien, 2006 .

Neurodegeneration: From cellular concepts to clinical applications

H. Zoghbi, B. de Strooper, A. Katsnelson, 2016, Science Translational Medicine.

Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3.

A. Ballabio, H. Zoghbi, M. Volta, 1999, Genomics.

Molecular Genetics and Neurobiology of Neurodegenerative and Neurodevelopmental Disorders

H. Zoghbi, 1997, Pediatric Research.

A de novo X;3 translocation in Rett syndrome.

D. Ledbetter, H. Zoghbi, D. Glaze, 1990, American journal of medical genetics.

Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice

H. Zoghbi, I. B. Van den Veyver, Siddharth K. Prakash, 2001, Mammalian Genome.

Expanding Our Understanding of Polyglutamine Diseases through Mouse Models

H. Zoghbi, Xi Lin, C. Cummings, 1999, Neuron.

Dysfunction of D2 dopamine receptor expressing neurons underlies manic-like behaviors in mice modeling SHANK3 duplication disorder

Zhandong Liu, H. Zoghbi, D. Standaert, 2021 .

Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA.

A. Beaudet, H. Zoghbi, S. Daiger, 1988, American journal of human genetics.

Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23.

H. Zoghbi, K. Kristjánsson, S. Chong, 1993, Genomics.

Dinucleotide repeat polymorphism at the D6S105 locus.

J. Weber, H. Zoghbi, A. Kwitek, 1991, Nucleic acids research.

Two dinucleotide repeat polymorphisms at the D6S202 locus.

H. Zoghbi, F. Le Borgne-Demarquoy, T. Kwiatowski, 1991, Nucleic acids research.

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

H. Zoghbi, A. Baldini, M. Grompe, 1994, American journal of medical genetics.

Genetic Aspects of Rett Syndrome

H. Zoghbi, 1988, Journal of child neurology.

Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1

Michael A. Mancini, Huda Y. Zoghbi, Harry T. Orr, 1998, Nature Genetics.

MeCP 2 dysfunction in Rett syndrome and related disorders

H. Zoghbi, P. Moretti, 2006 .

Genetic basis of Rett syndrome.

H. Zoghbi, I. B. Van den Veyver, 2002, Mental retardation and developmental disabilities research reviews.

Trinucleotide Repeat Expansions: Disorders

H. Zoghbi, D. Nelson, 2006 .

Gene proﬁling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice

H. Zoghbi, H. Orr, H. G. Serra, 2004 .

The yin and yang of MeCP2 phosphorylation

H. Zoghbi, H. Zoghbi, Hsiao-Tuan Chao, 2009, Proceedings of the National Academy of Sciences.

Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis.

J. Ott, A. Beaudet, H. Zoghbi, 1989, American journal of human genetics.

Coordination of Early Protective Immunity to Viral Infection by Regulatory T Cells

Stephen T. C. Wong, Huda Y. Zoghbi, Xiaobo Zhou, 2022 .

Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes

Maxime W. C. Rousseaux, H. Zoghbi, H. Orr, 2015, eLife.

Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome.

H. Zoghbi, C. J. Cummings, E. Dahle, 1998, American journal of medical genetics.

Ataxin-1 Nuclear Localization and Aggregation Role in Polyglutamine-Induced Disease in SCA1 Transgenic Mice

Harry T Orr, Pamela J Skinner, Steven M Hersch, 1998, Cell.

Toward understanding polyglutamine-induced neurological disease in spinocerebellar ataxia type 1.

H. Zoghbi, H. Orr, 1996, Cold Spring Harbor symposia on quantitative biology.

Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.

H. Zoghbi, D. Stockton, C. Bacino, 2000, American journal of human genetics.

Molecular genetics of hereditary ataxias.

H. Zoghbi, S. Banfi, 1994, Bailliere's clinical neurology.

Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles

Jason S. Mitchell, H. Zoghbi, H. Orr, 2022, Neuron.

Brief Report: MECP2 Mutations in People Without Rett Syndrome

H. Zoghbi, D. Glaze, B. Suter, 2013, Journal of Autism and Developmental Disorders.

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

H. Zoghbi, J. Belmont, H. Rosenblatt, 1992, American journal of human genetics.

Neuropathology of Rett syndrome

K. Jellinger, H. Zoghbi, F. Seitelberger, 2004, Acta Neuropathologica.

MeCP2 dysfunction in Rett syndrome and related disorders.

H. Zoghbi, P. Moretti, 2006, Current opinion in genetics & development.

Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred

A. Beaudet, H. Zoghbi, S. Daiger, 1988, Annals of neurology.

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

Juan I. Young, J. Castle, H. Zoghbi, 2005, Proceedings of the National Academy of Sciences of the United States of America.

MECP2 disorders: from the clinic to mice and back.

H. Zoghbi, S. A. Baker, Laura M Lombardi, 2015, The Journal of clinical investigation.

The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1

H. Zoghbi, H. Orr, T. Isobe, 1997, Nature.

Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice.

H. Zoghbi, H. Orr, H. Clark, 2001, The American journal of pathology.

Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4.

H. Zoghbi, G. Uhl, M. Seldin, 1992, Genomics.

Atypical presentation and neuropathological studies in 3‐hydroxy‐3‐methylglutaryl–CoA lyase deficiency

A. Beaudet, H. Zoghbi, W. O'Brien, 1986, Annals of neurology.

Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome.

A. C. Chinault, H. Zoghbi, E. McCabe, 1993, American journal of medical genetics.

A high resolution deletion map of human chromosome Xp22

T. Mohandas, A. Ballabio, H. Zoghbi, 1993, Nature Genetics.

Epigenetics and Human Disease.

A. Beaudet, H. Zoghbi, Arthur L Beaudet, 2016, Cold Spring Harbor perspectives in biology.

Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles

Huda Y. Zoghbi, H. Zoghbi, J. Gatchel, 2005, Nature Reviews Genetics.

A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

H. Zoghbi, U. Francke, N. C. Schanen, 1997, American journal of human genetics.

Dissection of the Cellular and Molecular Events that Position Cerebellar Purkinje Cells: A Study of the math1Null-Mutant Mouse

H. Zoghbi, D. Goldowitz, P. Jensen, 2002, The Journal of Neuroscience.

Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum.

A. Beaudet, H. Zoghbi, C. Eng, 1992, Genomics.

Childhood Disorders of the Synapse: Challenges and Opportunities

H. Zoghbi, V. Hughes, Morgan Sheng, 2012, Science Translational Medicine.

Rett syndrome and MeCP2: linking epigenetics and neuronal function.

H. Zoghbi, M. Shahbazian, 2002, American journal of human genetics.

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

H. Zoghbi, U. Francke, S. Naidu, 1999, American journal of human genetics.

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Ankita Patel, J. Lupski, S. Cheung, 2006, Genetics in Medicine.

Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments

Rodney C. Samaco, J. Piven, H. Zoghbi, 2019, Annals of neurology.

Lessons learned from studying syndromic autism spectrum disorders

H. Zoghbi, Y. Sztainberg, Yehezkel Sztainberg, 2016, Nature Neuroscience.

Development and utilization of a somatic cell hybrid mapping panel to assign NotI linking probes to the long arm of human chromosome 6.

P. Meltzer, J. Trent, H. Zoghbi, 1992, Genomics.

An Anatomically Resolved Mouse Brain Proteome Reveals Parkinson Disease-relevant Pathways *

Maxime W. C. Rousseaux, A. Malovannaya, H. Zoghbi, 2017, Molecular & Cellular Proteomics.

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations

H. Zoghbi, M. Shahbazian, H Y Zoghbi, 2001, Current opinion in neurology.

X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.

Juan I. Young, H. Zoghbi, 2004, American journal of human genetics.

Balanced X chromosome inactivation patterns in the Rett syndrome brain.

H. Zoghbi, Yaling Sun, M. Shahbazian, 2002, American journal of medical genetics.

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

H. Zoghbi, O. Lichtarge, A. Philippi, 2000, Annals of neurology.

Patterns of X chromosome inactivation in the rett syndrome

H. Zoghbi, A. Percy, R. Schultz, 1990, Brain and Development.

Organization, inducible-expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene.

H. Zoghbi, R. Reeves, R. Reeves, 1993, Nucleic acids research.

Linkage mapping and fluorescence in situ hybridization of TCTE1 on human chromosome 6p: analysis of dinucleotide polymorphisms on native gels.

B. Trask, A. Beaudet, H. Zoghbi, 1991, Genomics.

Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.

D. Ledbetter, H. Zoghbi, P. Vantuinen, 1988, American journal of human genetics.

A centromere-based genetic map of the short arm of human chromosome 6.

H. Cann, H. Zoghbi, J. Dausset, 1991, Genomics.

Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse.

A. Beaudet, H. Zoghbi, C. Eng, 1991, Genomics.

Chromosome assignment of human brain expressed sequence tags (ESTs) by analyzing fluorescently labeled PCR products from hybrid cell panels.

D. Maglott, H. Zoghbi, W. Nierman, 1994, Cytogenetics and cell genetics.

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I

H. Zoghbi, H. Orr, L. Ranum, 1993, Nature Genetics.

Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models.

Joshua J. White, Zhandong Liu, H. Zoghbi, 2016, Human molecular genetics.

Identification of a self-association region within the SCA1 gene product, ataxin-1.

H. Zoghbi, H. Orr, J. Davidson, 1997, Human molecular genetics.

Deletion and linkage mapping of eight markers from the proximal short arm of chromosome 6.

A. Beaudet, H. Zoghbi, C. Ballantyne, 1990, Genomics.

Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase.

K. Fischbeck, H. Zoghbi, H. Orr, 1996, Human molecular genetics.

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10

Takanori Yamagata, Huda Y. Zoghbi, Caleb F. Davis, 2000, Nature Genetics.

91 – The Cerebellum and the Hereditary Ataxias

H. Zoghbi, S. Maricich, P. Jafar-Nejad, 2017 .

Dominantly Inherited Spinocerebellar Syndromes

H. Zoghbi, S. Maricich, 2015 .

The Hereditary Ataxias

H. Zoghbi, P. Opal, 2013 .

Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.

S. Pulst, H. Zoghbi, D. Nelson, 2004, American journal of human genetics.

Spinocerebellar ataxia type 10 is rare in populations other than Mexicans

H. Zoghbi, T. Ashizawa, M. Pandolfo, 2002, Neurology.

Neurobiology of disease

H. Zoghbi, F. Gage, H. Zoghbi, 2000, Current Opinion in Neurobiology.

Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy

H. Zoghbi, T. Ashizawa, L. Bachinski, 1999, Annals of neurology.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

P. Stankiewicz, Ankita Patel, C. Shaw, 2009, Human molecular genetics.

Overexpression of Methyl-CpG Binding Protein 2 Impairs TH1 Responses

H. Zoghbi, D. Corry, Tianshu Yang, 2012, Science Translational Medicine.

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

J. Lupski, H. Zoghbi, C. Schaaf, 2009, Annals of neurology.

Mutation analysis of the M6b gene in patients with Rett syndrome.

H. Zoghbi, V. Narayanan, S. Naidu, 1998, American journal of medical genetics.

Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy.

J. Lupski, H. Zoghbi, E. Hoffman, 1991, American journal of medical genetics.

The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors

C. Thaller, H. Zoghbi, Jesús García, 2007, Proceedings of the National Academy of Sciences.

MeCP2 Levels Regulate the 3D Structure of Heterochromatic Foci in Mouse Neurons

H. Zoghbi, J. Iwakiri, M. Yuzaki, 2020, The Journal of Neuroscience.

Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome.

H. Zoghbi, I. B. Van den Veyver, S. Subramanian, 1998, American journal of medical genetics.

Getting Back to Basics

H. Zoghbi, S. Maricich, 2006, Cell.

Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice.

H. Zoghbi, H. Orr, R. Mestril, 2001, Human molecular genetics.

Genetic regulation of cerebellar development

Huda Y. Zoghbi, H. Zoghbi, Vincent Y. Wang, 2001, Nature Reviews Neuroscience.

A cell-based screen for modulators of ataxin-1 phosphorylation.

Harry T Orr, H. Zoghbi, H. Orr, 2005, Human molecular genetics.

Interaction of Akt-Phosphorylated Ataxin-1 with 14-3-3 Mediates Neurodegeneration in Spinocerebellar Ataxia Type 1

H. Zoghbi, J. Botas, H. Orr, 2003, Cell.

Serine 776 of Ataxin-1 Is Critical for Polyglutamine-Induced Disease in SCA1 Transgenic Mice

Effat S. Emamian, Huda Y. Zoghbi, Harry T. Orr, 2003, Neuron.

Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1.

Harry T Orr, H. Zoghbi, H. Orr, 2003, Human molecular genetics.

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation.

H. Zoghbi, M. Shahbazian, D. Armstrong, 2002, Human molecular genetics.

Exercise and Genetic Rescue of SCA1 via the Transcriptional Repressor Capicua

C. Shaw, H. Zoghbi, H. Orr, 2011, Science.

ATAXIN-1 Interacts with the Repressor Capicua in Its Native Complex to Cause SCA1 Neuropathology

Janghoo Lim, H. Zoghbi, J. Botas, 2006, Cell.

Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs.

P. R. Cox, H. Zoghbi, 2000, Genomics.

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

C. Shaw, H. Zoghbi, H. Orr, 2010, PLoS genetics.

Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.

J. Terwilliger, J. Ott, H. Zoghbi, 1992, American journal of human genetics.

Rett's Syndrome: Correlation of Electroencephalographic Characteristics With Clinical Staging

J. Frost, H. Zoghbi, D. Glaze, 1987 .

Rett syndrome: initial experience with an emerging clinical entity.

H. Zoghbi, V. Riccardi, A. Percy, 1985, Brain & development.

Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1

C. Thaller, H. Zoghbi, K. Ahmad, 2009, Proceedings of the National Academy of Sciences.

Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice

Harry T Orr, Aaron Ciechanover, A. Ciechanover, 1999, Neuron.

Evolutionarily conserved regulators of tau identify targets for new therapies

Zhandong Liu, H. Zoghbi, J. Botas, 2022, Neuron.

Acute effect of glycerol on net cerebrospinal fluid production in dogs.

H. Zoghbi, M. Fishman, J. Laurent, 1985, Journal of neurosurgery.

CHIP Protects from the Neurotoxicity of Expanded and Wild-type Ataxin-1 and Promotes Their Ubiquitination and Degradation*

Ismael Al-Ramahi, Juan Botas, Huda Y. Zoghbi, 2006, Journal of Biological Chemistry.

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

H. Zoghbi, M. Ramocki, Melissa B. Ramocki, 2008, Nature.

Neurogenetics: Advancing the “Next-Generation” of Brain Research

H. Zoghbi, S. Warren, 2010, Neuron.

Atoh1-Lineal Neurons Are Required for Hearing and for the Survival of Neurons in the Spiral Ganglion and Brainstem Accessory Auditory Nuclei

H. Zoghbi, Bernd Fritzsch, S. Maricich, 2009, The Journal of Neuroscience.

A Long CAG Repeat in the Mouse Sca1 Locus Replicates SCA1 Features and Reveals the Impact of Protein Solubility on Selective Neurodegeneration

H. Zoghbi, M. Kano, J. Sweatt, 2002, Neuron.

SHANK3 overexpression causes manic-like behavior with unique pharmacogenetic properties

A. Breman, Ankita Patel, S. Cheung, 2013, Nature.

RAS–MAPK–MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1

Hyojin Kang, Ismael Al-Ramahi, Juan Botas, 2013, Nature.

Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes

Rodney C. Samaco, H. Zoghbi, Juliette J. Kahle, 2007, Nature Genetics.

Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1

Huda Y. Zoghbi, Harry T. Orr, H. Zoghbi, 2000, Nature Neuroscience.

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

Harry T Orr, H. Zoghbi, H. Orr, 1995, Cell.

Anticipating new clues

H. Zoghbi, 2012 .

Trinucleotide repeats: mechanisms and pathophysiology.

H. Zoghbi, C. Cummings, C. J. Cummings, 2000, Annual review of genomics and human genetics.

Mapmodulin/Leucine-rich Acidic Nuclear Protein Binds the Light Chain of Microtubule-associated Protein 1B and Modulates Neuritogenesis*

H. Zoghbi, H. Orr, Jesús García, 2003, Journal of Biological Chemistry.

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.

H. Zoghbi, K. Hoon, R. Amir, 2000, American journal of human genetics.

Progress in pathogenesis studies of spinocerebellar ataxia type 1.

H. Zoghbi, H. Orr, C J Cummings, 1999, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

Characterization of the Zebrafish atxn1/axh Gene Family

H. Zoghbi, H. Orr, H. Clark, 2009, Journal of neurogenetics.

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome

H. Zoghbi, R. Amir, D. Glaze, 2005, Journal of Medical Genetics.

Yasunari Sakai Autism Disorders Protein Interactome Reveals Converging Molecular Pathways Among

Diana V. Dugas, B. Dawson, C. Shaw, 2011 .

Spinocerebellar ataxia type 1.

H. Zoghbi, H Y Zoghbi, 1995, Clinical neuroscience.

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

Harry T. Orr, Sandro Banfi, H. Zoghbi, 1994, Nature Genetics.

Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders

H. Zoghbi, M. Fagiolini, A. Patrizi, 2020, Neuroscience.

14-3-3 Binding to Ataxin-1(ATXN1) Regulates Its Dephosphorylation at Ser-776 and Transport to the Nucleus*

H. Zoghbi, H. Orr, Shaojuan Lai, 2011, The Journal of Biological Chemistry.

SCA1-like Disease in Mice Expressing Wild-Type Ataxin-1 with a Serine to Aspartic Acid Replacement at Residue 776

Huda Y. Zoghbi, Harry T. Orr, Janghoo Lim, 2010, Neuron.

Expression analysis of the ataxin–1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals

H. Zoghbi, H. Orr, D. Armstrong, 1995, Nature Genetics.

From Anatomy to Electrophysiology: Clinical Lasker Goes Deep

H. Zoghbi, 2014, Cell.

Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways

H. Zoghbi, H. Orr, Rendong Yang, 2016, Neuron.

Purkinje Cell Ataxin-1 Modulates Climbing Fiber Synaptic Input in Developing and Adult Mouse Cerebellum

T. Ebner, H. Zoghbi, H. Orr, 2013, The Journal of Neuroscience.

Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1*

Harry T Orr, H. Zoghbi, H. Orr, 2009, Journal of Biological Chemistry.

RORα-Mediated Purkinje Cell Development Determines Disease Severity in Adult SCA1 Mice

H. Zoghbi, H. Orr, H. G. Serra, 2006, Cell.

Purkinje Cell Expression of a Mutant Allele of SCA1in Transgenic Mice Leads to Disparate Effects on Motor Behaviors, Followed by a Progressive Cerebellar Dysfunction and Histological Alterations

H. Zoghbi, H. Orr, E. Burright, 1997, The Journal of Neuroscience.

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

M. Leppert, H. Zoghbi, K. Digre, 1995, Nature Genetics.

Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded.

H. Zoghbi, B. Keats, A. McCall, 1991, American journal of human genetics.

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds.

H M Cann, C Jodice, H. Cann, 1991, American journal of human genetics.

Glutamine-Expanded Ataxin-7 Alters TFTC/STAGA Recruitment and Chromatin Structure Leading to Photoreceptor Dysfunction

H. Zoghbi, S. Picaud, L. Tora, 2006, PLoS biology.

Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels

Masahiko Watanabe, R. Tsien, H. Zoghbi, 2008, Proceedings of the National Academy of Sciences.

The role of chaperones in polyglutamine disease.

H. Zoghbi, P. Opal, 2002, Trends in molecular medicine.

Reduction of Purkinje Cell Pathology in SCA1 Transgenic Mice by p53 Deletion

H. Zoghbi, H. Orr, M. Shahbazian, 2001, Neurobiology of Disease.

Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model

H. Zoghbi, H. Orr, M. Walters, 2018, Neurobiology of Disease.

Regional vulnerability in a neurodegenerative disease: Delineating SCA1 CNS and muscle therapeutic targets using a conditional mutant ATXN1 mouse.

Jason S. Mitchell, H. Zoghbi, J. Ervasti, 2023, bioRxiv : the preprint server for biology.

Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model

H. Zoghbi, H. Orr, Meike E. van der Heijden, 2022, JCI insight.

Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

H. Zoghbi, H. Orr, P. Skinner, 1997, Nature.

Enhanced SUMOylation in polyglutamine diseases.

H. Zoghbi, I. Kanazawa, H. Kawano, 2002, Biochemical and biophysical research communications.

In Vivo Neuronal Subtype-Specific Targets of Atoh1 (Math1) in Dorsal Spinal Cord

H. Zoghbi, H. Lai, Jane E. Johnson, 2011, The Journal of Neuroscience.

Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.

H. Zoghbi, S. Tsuji, A. Durr, 1998, American journal of human genetics.

Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado‐Joseph disease

H. Zoghbi, S. Subramony, A. McCall, 1995, Annals of neurology.

Gametic and somatic tissue–specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1

H. Zoghbi, H. Orr, S. Subramony, 1995, Nature Genetics.

Ataxin1L Is a Regulator of HSC Function Highlighting the Utility of Cross-Tissue Comparisons for Gene Discovery

C. Shaw, H. Zoghbi, Juliette J. Kahle, 2013, PLoS genetics.

Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome

Christina Thaller, Huda Y. Zoghbi, C. Thaller, 2006, Proceedings of the National Academy of Sciences.

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

Rodney C. Samaco, C. Thaller, H. Zoghbi, 2009, Proceedings of the National Academy of Sciences.

Dual targeting of brain region‐specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1

Maxime W. C. Rousseaux, Zhandong Liu, H. Zoghbi, 2021, The EMBO journal.

Karyopherin α 3 and Karyopherin α 4 Proteins Mediate the Nuclear Import of Methyl-CpG Binding Protein 2*

H. Zoghbi, S. A. Baker, Laura M Lombardi, 2015, The Journal of Biological Chemistry.

Genetic Modifiers of MeCP2 Function in Drosophila

H. Zoghbi, J. Botas, Zhaolan Zhou, 2008, PLoS genetics.

Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis.

Juan I. Young, H. Zoghbi, Huda Y Zoghbi, 2007, Human molecular genetics.

A Mutant Form of MeCP2 Protein Associated with Human Rett Syndrome Cannot Be Displaced from Methylated DNA by Notch in Xenopus Embryos.

H. Zoghbi, R. Meehan, I. Stancheva, 2016, Molecular cell.

Erratum: Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2 (Proceedings of the National Academy of Sciences of the United States of America (December 6, 2005) 102, 49 (17551-17558) DOI: 10.1073/pnas.0507856102)

Juan I. Young, J. Castle, H. Zoghbi, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Genome Wide Distribution of Linker Histone H1.0 is Independent of MeCP2

Zhandong Liu, H. Zoghbi, Laura A Lavery, 2018, Nature Neuroscience.

Modelling brain diseases in mice: the challenges of design and analysis

H. Zoghbi, K. Watase, 2003, Nature Reviews Genetics.

Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation.

E. Eichler, H. Zoghbi, R. Sinden, 1998, Biochemistry.

PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1

H. Zoghbi, J. Botas, H. Orr, 2018, Human molecular genetics.

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

Wei Li, Christian P Schaaf, J. Rosenfeld, 2015, eLife.

Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1).

H. Zoghbi, H. Orr, S. Banfi, 1996, Human molecular genetics.

Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease.

Stacy D. Grunke, H. Zoghbi, J. Botas, 2019, Human molecular genetics.

Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3ε haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration

H. Zoghbi, H. Orr, P. Jafar-Nejad, 2011, Proceedings of the National Academy of Sciences.

The role of LANP and ataxin 1 in E4F‐mediated transcriptional repression

H. Zoghbi, P. Opal, M. Cvetanovic, 2007, EMBO reports.

Sixty-five radiation hybrids for the short arm of human chromosome 6: their value as a mapping panel and as a source for rapid isolation of new probes using repeat element-mediated PCR.

H. Zoghbi, A. McCall, F. LeBorgne-Demarquoy, 1991, Genomics.

Fourteen and counting: unraveling trinucleotide repeat diseases.

H. Zoghbi, C J Cummings, H Y Zoghbi, 2000, Human molecular genetics.

dAtaxin-2 Mediates Expanded Ataxin-1-Induced Neurodegeneration in a Drosophila Model of SCA1

S. Pulst, Janghoo Lim, H. Zoghbi, 2007, PLoS genetics.

Mouse and fly models of neurodegeneration.

H. Zoghbi, J. Botas, 2002, Trends in genetics : TIG.

SCA1 molecular genetics: a history of a 13 year collaboration against glutamines.

H. Zoghbi, H. Orr, H Y Zoghbi, 2001, Human molecular genetics.

Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles

Jason S. Mitchell, H. Zoghbi, H. Orr, 2022, Neuron.

Loss of Ataxin-1 Potentiates Alzheimer’s Pathogenesis by Elevating Cerebral BACE1 Transcription

H. Zoghbi, J. Schmahmann, R. Tanzi, 2019, Cell.

A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1

Maxime W. C. Rousseaux, H. Zoghbi, U. Sengupta, 2015, eLife.

Deficiency of Capicua disrupts bile acid homeostasis

H. Zoghbi, D. Hwang, Yoontae Lee, 2015, Scientific Reports.

Polyglutamine Disease Toxicity Is Regulated by Nemo-like Kinase in Spinocerebellar Ataxia Type 1

Janghoo Lim, H. Zoghbi, Juliette J. Kahle, 2013, The Journal of Neuroscience.

Regional Rescue of SCA1 Phenotypes by 14-3-3ε Haploinsufficiency in Mice Underscores Complex Pathogenicity in Neurodegeneration

H. Zoghbi, P. Jafar-Nejad, R. Richman, 2010 .

Spinocerebellar ataxia type 1 (SCA1) is caused by the expansion of a cytosine-adenosine-guanosine trinucleotide repeat that encodes a polyglutamine tract in the ataxin-1

H. Zoghbi, H. Orr, P. Jafar-Nejad, 2009 .

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

Janghoo Lim, H. Zoghbi, H. Orr, 2008, Nature.

The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7

C. Shaw, C. Thaller, H. Zoghbi, 2008, Proceedings of the National Academy of Sciences.

Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin‐1

H. Zoghbi, H. Orr, J. Andresen, 2007, Journal of neurochemistry.

Increased Expression of α1A Ca2+Channel Currents Arising from Expanded Trinucleotide Repeats in Spinocerebellar Ataxia Type 6

Huda Y. Zoghbi, Olga Zhuchenko, R. Tsien, 2001, The Journal of Neuroscience.

Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction.

D. Ledbetter, H. Zoghbi, R. Cottingham, 1992, Genomics.

Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).

D. Ledbetter, H. Zoghbi, C. Caskey, 1991, American journal of human genetics.

The clinical and genetic spectrum of spinocerebellar ataxia 14

H. Zoghbi, T. Bird, R. Margolis, 2005, Neurology.

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.

G. Borsani, E. Rugarli, A. Ballabio, 1994, Human molecular genetics.

Reversing Neurodegeneration:A Promise Unfolds

H. Zoghbi, H. Orr, 2000, Cell.

Insights from mouse models into the molecular basis of neurodegeneration.

H. Zoghbi, N. Heintz, 2000, Annual review of physiology.

Polyglutamine diseases: protein cleavage and aggregation

H. Zoghbi, H. Orr, 1999, Current Opinion in Neurobiology.

Recovery from Polyglutamine-Induced Neurodegeneration in Conditional SCA1 Transgenic Mice

Harry T Orr, Tao Zu, H. Zoghbi, 2004, The Journal of Neuroscience.

Increased trinucleotide repeat instability with advanced maternal age.

H. Zoghbi, H. Orr, E. Burright, 1997, Human molecular genetics.

Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq.

H. Zoghbi, R. Amir, E. Dahle, 2000, American journal of medical genetics.

Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone

J. Frost, J. Jankovic, H. Zoghbi, 1994, Annals of neurology.

Rett Syndrome: Qualitative and Quantitative Differentiation from Autism

J. Jankovic, H. Zoghbi, A. Percy, 1988 .

Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA.

H. Zoghbi, R. Paylor, S. Jenna, 2000, Human molecular genetics.

717. RNAi Therapy for Dominant Neurodegenerative Diseases

H. Zoghbi, H. Paulson, Haibin Xia, 2004 .

Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice

Huda Y. Zoghbi, Harry T. Orr, H. Zoghbi, 2002, NeuroMolecular Medicine.

Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype

H. Zoghbi, T. Ashizawa, R. de Silva, 1998, Neurology.

Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1

Zhandong Liu, H. Zoghbi, H. Orr, 2021, JCI insight.

Mapping of the Sca1 and pcd genes on mouse chromosome 13 provides evidence that they are different genes.

H. Zoghbi, A. McCall, A. Servadio, 1995, Genomics.

Dinucleotide repeat polymorphism at the D6S109 locus.

H. Zoghbi, H. Orr, L. Ranum, 1991, Nucleic acids research.

Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice.

H. Zoghbi, H. Orr, H. G. Serra, 2004, Human molecular genetics.

Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects.

H. Zoghbi, L. Schaefer, S. Prakash, 1997, Genomics.

Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles.

H. Zoghbi, H. Orr, G. Öz, 2018, JCI insight.

Fine mapping of a human chromosome 6 ferritin heavy chain pseudogene: relevance to haemochromatosis

H. Zoghbi, K. Summers, L. Powell, 1991, Human Genetics.

The structural genes, MEP1A and MEP1B, for the α and β subunits of the metalloendopeptidase meprin map to human chromosomes 6p and 18q, respectively

H. Zoghbi, J. Overhauser, K. Rojas, 1995 .

Merkel Cells Are Essential for Light-Touch Responses

Gregory J. Gerling, Ellen A. Lumpkin, G. J. Gerling, 2009, Science.

Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6.

H. Zoghbi, W. O'Brien, F. Ledley, 1988, Genomics.

Rett syndrome: qualitative and quantitative differentiation from autism.

J. Jankovic, H. Zoghbi, A. Percy, 1988, Journal of child neurology.

Erratum: Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures

H. Zoghbi, H. Orr, P. Skinner, 1998, Nature.

SUMOylation of the Polyglutamine Repeat Protein, Ataxin-1, Is Dependent on a Functional Nuclear Localization Signal*

H. Zoghbi, H. Orr, B. Riley, 2005, Journal of Biological Chemistry.

TRIM28 regulates the stability and toxicity of alpha-synuclein and tau through a common mechanism

H. Zoghbi, R. Kayed, P. Jafar-Nejad, 2015, Journal of the Neurological Sciences.

Deep brain stimulation for Parkinson disease: the 2014 Lasker-DeBakey Clinical Medical Research Award.

H. Zoghbi, M. Rousseaux, 2015, JAMA neurology.

Assignment of autosomal dominant spinocerebellar ataxia centromeric to HLA using multilocus linkage analysis

J. Ott, A. Beaudet, H. Zoghbi, 1988 .

Pathophysiology of SCA1

H. Zoghbi, H. Orr, 2001 .

Spinocerebellar Ataxia and Other Disorders of Trinucleotide Repeats

H. Zoghbi, 1998 .

Huntingtin's critical cleavage

H. Zoghbi, J. Fryer, 2006, Nature Neuroscience.

Transgenic Mouse Models of CAG Trinucleotide Repeat Neurologic Diseases

H. Zoghbi, H. Orr, 1999 .

Delineating regional vulnerability in the neurodegenerative disease SCA1 using a conditional mutant ATXN1 mouse

Jason S. Mitchell, H. Zoghbi, J. Ervasti, 2023, bioRxiv.

Rett syndrome: Discrimination of typical and variant forms

H. Zoghbi, D. Glaze, A. Percy, 1987, Brain and Development.

Mental retardation

H. Zoghbi, M. Patterson, 2003, Neurology.

Neurobiology of disease

H. Zoghbi, H. Zoghbi, F. Gage, 2022 .

Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors

John F. Magnotti, H. Zoghbi, Zhandong Liu, 2019, Proceedings of the National Academy of Sciences.

Author response: NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

J. Rosenfeld, E. Roeder, S. Cheung, 2015 .

Preclinical research in Rett syndrome: setting the foundation for translational success

Rodney C. Samaco, S. Nelson, H. Zoghbi, 2012, Disease Models & Mechanisms.

Glutamine repeats and neurodegeneration.

H. Zoghbi, H. Zoghbi, H. Orr, 2000, Annual review of neuroscience.

Evolutionary conservation of sequence and expression of the bHLH protein Atonal suggests a conserved role in neurogenesis.

H. Zoghbi, G. Eichele, H. Zoghbi, 1996, Human molecular genetics.

Disrupting ATXN1 Nuclear Localization in a Knock-in SCA1 Mouse Model Improves a Spectrum of SCA1-Like Phenotypes and their Brain Region Associated Transcriptomic Profiles

H. Zoghbi, H. Orr, C. Henzler, 2021, bioRxiv.

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.

H. Zoghbi, H. Orr, S. Subramony, 1994, American journal of human genetics.

Neurobiology of disease

H. Zoghbi, Fred H. Gage, Dennis W Choi, 2000, Current Opinion in Neurobiology.

Genetics and Neurobiology Neurobiology of Disease Cell Injury and Death Cellular and Molecular Approaches to Neural Repair the Future

H. Zoghbi, F. Gage, D. Choi, 2022 .

The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus.

A. Beaudet, H. Zoghbi, H. Orr, 1993, American journal of human genetics.

CAG Repeats in SCA6

H. Zoghbi, 1997, Neurology.

Correlation of Electroencephalographic Characteristics With Clinical Staging

J. Frost, H. Zoghbi, D. Glaze, 2016 .

Spinocerebellar ataxia type 1.

H. Zoghbi, H. Orr, Xi Lin, 2014, Handbook of clinical neurology.

Spinocerebellar ataxia type 1.

H. Zoghbi, H. Orr, 1995, Seminars in cell biology.

Identification of a novel phosphorylation site in ataxin-1.

H. Zoghbi, H. Orr, D. Ferrington, 2005, Biochimica et biophysica acta.

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.

M. Bear, H. Zoghbi, 2012, Cold Spring Harbor perspectives in biology.

Neurogenetics: Advancing the “Next-Generation” of Brain Research

H. Zoghbi, S. Warren, 2010, Neuron.

Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model

H. Zoghbi, H. Orr, M. Walters, 2018, Neurobiology of Disease.

A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.

A. C. Chinault, A. Ballabio, H. Zoghbi, 1994, Human molecular genetics.

Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles.

H. Zoghbi, H. Orr, G. Öz, 2018, JCI insight.

Introduction: Rett syndrome.

H. Zoghbi, 2002, Mental retardation and developmental disabilities research reviews.

Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1

C. Thaller, H. Zoghbi, K. Ahmad, 2009, Proceedings of the National Academy of Sciences.

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

H. Zoghbi, D. Glaze, A. Percy, 2008, Neurology.