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List of works by Huda Zoghbi

14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus

scientific article

14-3-3 binding to Ataxin-1 (ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus

scientific article published in Journal of Biological Chemistry

A Druggable Genome Screen Identifies Modifiers of α-Synuclein Levels via a Tiered Cross-Species Validation Approach

scientific article published on 24 September 2018

A Mixed Epigenetic and Genetic and Mixed De Novo and Inherited Model for Autism

scholarly article published 25 April 2006

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

scientific article published in July 2016

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

scientific article published on July 1994

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

scientific article

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

scientific article published on March 1991

A de novo X;3 translocation in Rett syndrome

scientific article published on January 1990

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

scientific article

A high resolution deletion map of human chromosome Xp22.

scientific article published on July 1993

A human single copy DNA probe (ZB6-1) detects multiple polymorphisms on 6q.

scientific article published on February 1988

A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability

scientific article published on 29 January 2019

A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration.

scientific article published in June 2002

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

retracted scientific article

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

scientific article published on 19 May 2015

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

scientific article

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

scientific article

A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration

scientific article

ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology

scientific article published in December 2006

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

scientific journal article

Aberrant myofibril assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethality

scientific journal article

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

scientific article

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

scientific article published in November 1985

Adult neural function requires MeCP2.

scientific article published on 2 June 2011

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

scientific article

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

scientific article published in January 2002

An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders

scientific article published on February 2013

An Atoh1-S193A phospho-mutant allele causes hearing deficits and motor impairment

scientific article published on 20 July 2017

An RNA interference screen identifies druggable regulators of MeCP2 stability.

scientific article published in August 2017

An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function

scientific article published on 04 January 2019

An easy and rapid method for the detection of chimeric yeast artificial chromosome clones

scientific article

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

scientific article published on 01 October 1995

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

scientific article published in October 2001

Analysis of the CAG repeat and gene product in spinocerebellar ataxia type 1.

scientific article published on July 1995

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

scientific article

Antisense oligonucleotide therapy in a humanized mouse model of <i>MECP2</i> duplication syndrome

scientific article published on 01 March 2021

Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations

scientific article published in Nature Communications

Assignment of an Intron-Containing Human Heat-Shock Protein Gene (hsp90β, 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

article

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

scientific article

Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice

scientific article published in October 1998

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

scientific article published on 17 December 2015

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

scientific article

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

scientific article published in Nature

Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery

scientific journal article

Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood.

scientific article

Atoh1-dependent rhombic lip neurons are required for temporal delay between independent respiratory oscillators in embryonic mice

scientific article

Atoh1-lineal neurons are required for hearing and for the survival of neurons in the spiral ganglion and brainstem accessory auditory nuclei

scientific article

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

scientific article published on September 1986

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

scientific article

Autoregulation and multiple enhancers control Math1 expression in the developing nervous system

scientific article published on March 2000

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

scientific article

Balanced X chromosome inactivation patterns in the Rett syndrome brain

scientific article published in August 2002

BclI and MspI polymorphisms at the D6S90 locus

scientific article published in October 1990

Bias toward long gene misregulation in synaptic disorders can be an artefact of amplification-based methods

article

Brief report: MECP2 mutations in people without Rett syndrome

scientific article published on March 2014

CAG Repeats in SCA6: Anticipating new clues

scientific article published on 01 November 1997

CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation

scientific article

CRISPRcloud: A secure cloud-based pipeline for CRISPR pooled screen deconvolution

scientific article published on 24 May 2017

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

scientific article published in April 2001

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

scientific article (publication date: 3 January 2000)

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

scientific article

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

scientific article published on 2 March 2016

Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome

scientific article

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

scientific article published in June 1998

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

scientific article

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

scientific article published in July 1999

Characterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factor

scientific article

Characterization of the zebrafish atxn1/axh gene family

scientific article published on 10 December 2008

Childhood disorders of the synapse: challenges and opportunities

scientific article published on September 2012

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

scientific article published in January 1994

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

scientific journal article

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)

scientific article

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

scientific article published in January 1996

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

scientific article

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

scientific article

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

scientific article published on 26 March 2009

Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome

scientific article

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

scientific article published on March 2015

Deficiency of Capicua disrupts bile acid homeostasis

scientific article

Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice

scientific article published in 2021

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

scientific article published on 01 February 1990

Deletion of Atoh1 disrupts Sonic Hedgehog signaling in the developing cerebellum and prevents medulloblastoma

scientific article published on December 2009

Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.

scientific article published on September 2008

Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome

scientific article published on December 2013

Depleting Trim28 in adult mice is well tolerated and reduces levels of α-synuclein and tau

Depleting Trim28 in adult mice is well tolerated and reduces levels of α-synuclein and tau.

scientific article

Detection of chimerism in YAC clones

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

scientific article published in March 1992

Development of the brainstem respiratory circuit

scientific article published on 09 December 2019

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

scientific article

Dinucleotide repeat polymorphism at the D6S105 locus

scientific article published on February 1991

Dinucleotide repeat polymorphism at the D6S109 locus

scientific article published in March 1991

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

article

Diseases of unstable repeat expansion: mechanisms and common principles

scientific article

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

scientific article published on 13 March 2017

Dissection of the cellular and molecular events that position cerebellar Purkinje cells: a study of the math1 null-mutant mouse

scientific journal article

Dominantly Inherited Spinocerebellar Syndromes

Doublecortin-like Kinase 1 Regulates α-Synuclein Levels and Toxicity

scientific article published on 20 November 2019

Drosophila atonal fully rescues the phenotype of Math1 null mice: new functions evolve in new cellular contexts

scientific article published in September 2002

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

scientific article published on 11 March 2021

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

scientific article published on 18 February 2007

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

scientific article

Editorial overview: Surprises still in store

Enhanced SUMOylation in polyglutamine diseases

scientific article

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

scientific journal article

Epigenetics and Human Disease.

scientific article published in February 2016

Epigenetics of Psychiatric Diseases

Epigenetics of Psychiatric Diseases

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

scientific article published in Nature

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

scientific article published on November 1993

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

scientific article

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

scientific article published on February 1, 1992

Excessive ERK-dependent synaptic clustering with enhanced motor learning in the MECP2 duplication syndrome mouse model of autism

article

Excessive formation and stabilization of dendritic spine clusters in the MECP2 duplication syndrome mouse model of autism

scientific article published on 09 November 2020

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

scientific article

Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua

scientific article published on November 2011

Expanding our understanding of polyglutamine diseases through mouse models

scientific article

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

scientific article

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

scientific article

Expression profiling in Math1 null and heterozygous intestine: identification of genes involved in specification of epithelial lineages and normal embryonic development

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

scientific article

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

scientific article published on 7 October 2016

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

scientific article published on October 2008

Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies

scientific article

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

scientific article published in December 1991

For Huda Zoghbi, collaboration is the key to unlocking the secrets of neurobiology. Interview by Kathryn Claiborn

scientific article published on September 2011

Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity.

scientific article published on 23 March 2018

Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice

scientific article published on October 2015

Fourteen and counting: unraveling trinucleotide repeat diseases

scientific article

Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice

scientific article

From anatomy to electrophysiology: clinical Lasker goes deep

scientific article published in September 2014

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

scientific article

Functional conservation of atonal and Math1 in the CNS and PNS.

scientific article published in March 2000

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

scientific article

Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model.

scientific article

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

scientific article

Generation and characterization of LANP/pp32 null mice

scientific article published on April 2004

Generation of a mouse model for arginase II deficiency by targeted disruption of the arginase II gene

scientific article published on February 2001

Genetic aspects of Rett syndrome

scientific article published on January 1988

Genetic basis of Rett syndrome

scientific article

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

article

Genetic modifiers of MeCP2 function in Drosophila

scientific article

Genetic regulation of cerebellar development

scientific article

Genome-wide distribution of linker histone H1.0 is independent of MeCP2

scientific article published on 25 May 2018

Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4

scientific article published in 2001

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

scientific article

Getting back to basics

scientific article published in July 2006

Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation

scientific article

Glutamine repeats and neurodegeneration

scientific article

Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction.

scientific article

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

scientific article

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

scientific article published on 01 July 1989

Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p

scientific article published on 21 February 2013

Huntingtin's critical cleavage

scientific article published in September 2006

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

scientific article

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

scientific article published in August 1994

Identification and subclassification of new Atoh1 derived cell populations during mouse spinal cord development

scientific article published on 25 December 2008

Identification of a novel phosphorylation site in ataxin-1.

scientific article

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

scientific article

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

scientific article

Identification of genes that modify ataxin-1-induced neurodegeneration

scientific article published in November 2000

Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice

scientific journal article

Impaired spatial memory codes in a mouse model of Rett syndrome

scientific article published on 20 July 2018

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

scientific article

In vivo neuronal subtype-specific targets of Atoh1 (Math1) in dorsal spinal cord

scientific article

Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10

scientific article

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

scientific article published in December 2006

Increased axonal bouton stability during learning in the mouse model of MECP2 duplication syndrome

article published in 2017

Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6.

scientific article

Increased trinucleotide repeat instability with advanced maternal age.

scientific article published in November 1997

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

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

scientific article published on 01 May 2000

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

scientific journal article

Insights from mouse models into the molecular basis of neurodegeneration

scientific article

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

scientific article published on 29 April 2020

Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1.

scientific article

Interruptions in the Triplet Repeats of SCA1 and FRAXA Reduce the Propensity and Complexity of Slipped Strand DNA (S-DNA) Formation†

scientific article published in 1998

Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis

scientific article

Introduction: Rett syndrome

article published in 2002

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

scientific article published on 2 October 2011

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

article published in 1993

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

scientific article

Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth.

scientific article published on 23 November 2017

Karyopherin α 3 and karyopherin α 4 proteins mediate the nuclear import of methyl-CpG binding protein 2

scientific article

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

scientific article

Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome

scientific journal article

Lessons learned from studying syndromic autism spectrum disorders

scientific article

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

scientific article

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)

scientific article

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

scientific article

Linkage studies in dominantly inherited ataxias.

scientific article published on January 1993

Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model

scientific article

Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome

scientific article published on 11 March 2020

Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model

scientific article

Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes

scientific article

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

scientific article

Loss of from neurons regulating hypoxic and hypercapnic chemoresponses causes neonatal respiratory failure in mice

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

scientific article (publication date: December 2002)

MECP2 disorders: from the clinic to mice and back

scientific article

Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders

scientific article

Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesis

scientific article (publication date: 5 September 2003)

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.

scientific article published on December 1993

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

scientific article

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

scientific article

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

article

Mapping of theSca1andpcdGenes on Mouse Chromosome 13 Provides Evidence That They Are Different Genes

article

Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum

scientific journal article

Math1 is essential for genesis of cerebellar granule neurons

scientific article published in November 1997

Math1 is essential for the development of hindbrain neurons critical for perinatal breathing

scientific article

Math1: an essential gene for the generation of inner ear hair cells

scientific journal article

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

scientific article published on 12 October 2020

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

scientific article published on 13 April 2015

MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number

scientific journal article

MeCP2 dysfunction in Rett syndrome and related disorders

scientific article

MeCP2 dysfunction in humans and mice

scientific article

MeCP2, a key contributor to neurological disease, activates and represses transcription

scientific article

MeCP2: only 100% will do.

scientific article published on 26 January 2012

Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex

scientific article published on 01 November 2019

Medicine. The future of psychiatric research: genomes and neural circuits

scientific article

Mental retardation: X marks the spot

scientific article published in July 2003

Merkel cells are essential for light-touch responses

scientific article

Methyl-CpG-binding protein 2 mutations in Rett syndrome

scientific article

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

scientific article

Mice lacking Tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memory

scientific journal article

Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation

scientific journal article

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

scientific article (publication date: 18 July 2002)

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

scientific article published in January 1994

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice

scientific article published on 6 September 2004

Modeling polyglutamine pathogenesis in mice: SCA1

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

scientific article

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

article by Antoni Matilla et al published July 1995 in Annals of Neurology

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

scientific article

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

scientific article

Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders

scientific article published on May 1997

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations

scientific article

Molecular genetics of hereditary ataxias

article

Molecular neuroscience: BAC-to-BAC images of the brain

scientific article

Motor neuron degeneration correlates with respiratory dysfunction in SCA1.

scientific article

Mouse and fly models of neurodegeneration

scientific article

Mouse models as a tool for discovering new neurological diseases

scientific article published on 17 July 2018

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus

scientific article published on 15 April 2009

MspI and MboI polymorphisms at the DXS704 locus

scientific article published on September 1991

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

scientific article published on June 1998

Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice.

scientific article

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway

scientific journal article

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

scientific article

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

scientific article (publication date: December 2001)

NR2F1 mutations cause optic atrophy with intellectual disability.

scientific article published on 23 January 2014

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

scientific article

Neurexophilin4 is a selectively expressed α-neurexin ligand that modulates specific cerebellar synapses and motor functions

scientific article published on 16 September 2019

Neurobiology of disease

scientific article

Neurodegeneration: From cellular concepts to clinical applications

scientific article published on November 2016

Neurogenetics: advancing the "next-generation" of brain research

scientific article

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

scientific article published on 20 January 2005

Neuropathology of Rett syndrome

scientific article published on 01 January 1988

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

scientific article

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

scientific article

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

scientific article

Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome

scientific article published in February 2018

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

scientific article published in July 2001

Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses

scientific article

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

scientific article

Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation

scientific article published on 22 April 2020

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

scientific article

Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis

scientific journal article

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

scientific article

Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1

scientific article

Pathophysiology of SCA1

Patterns of X chromosome inactivation in the Rett syndrome

scientific article published on January 1990

Pharmacometabolomic signature of ataxia SCA1 mouse model and lithium effects

scientific article

Phosphorylation of ATXN1 at Ser776 in the cerebellum

scientific article published on 15 May 2009

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

scientific article published on October 1992

Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1.

scientific article published on May 2013

Polyglutamine diseases: protein cleavage and aggregation.

scientific article

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

scientific article

Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.

scientific article

Post-translational Control of the Temporal Dynamics of Transcription Factor Activity Regulates Neurogenesis

scientific article published on January 2016

Postnatal Neurodevelopmental Disorders: Meeting at the Synapse? ⬇️

scientific article (publication date: 31 October 2003)

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

scientific article

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

scientific journal article

Progress in pathogenesis studies of spinocerebellar ataxia type 1.

scientific article

Proprioceptor pathway development is dependent on Math1.

scientific article published in May 2001

Protein interactome reveals converging molecular pathways among autism disorders

scientific article

Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels ⬇️

scientific article

Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum

scientific article published on March 2013

Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations.

scientific article published in October 1997

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

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RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice

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

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Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice.

scientific article published in October 2004

Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model

scientific article published on 06 October 2016

Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion

scientific article published in December 2001

Reduction of biogenic amine levels in the Rett syndrome

scientific article published on October 1985

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

scientific article published on 2 September 2003

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

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

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

scientific article published on 01 March 2000

Requirement of Math1 for secretory cell lineage commitment in the mouse intestine

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Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn

scientific article published on 4 April 2017

Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome.

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Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

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Rett Syndrome and the Ongoing Legacy of Close Clinical Observation

scientific article published in October 2016

Rett syndrome and MeCP2: linking epigenetics and neuronal function

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

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

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Rett syndrome: a prototypical neurodevelopmental disorder

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

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Rett syndrome: discrimination of typical and variant forms

scientific article published in January 1987

Rett syndrome: disruption of epigenetic control of postnatal neurological functions

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Rett syndrome: initial experience with an emerging clinical entity

scientific article published in January 1985

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

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Rett syndrome: qualitative and quantitative differentiation from autism

scientific article published in January 1988

Rett syndrome: what do we know for sure?

scientific article published in March 2009

Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging

scientific article published in October 1987

Rett's syndrome: characterization of respiratory patterns and sleep

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Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

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Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides

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Reversing neurodegeneration: a promise unfolds

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SAVE: A secure cloud-based pipeline for CRISPR pooled screen deconvolution

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

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

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SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776.

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SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.

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SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

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SILencing misbehaving proteins

SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal

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Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center

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Scientists. Curiosity and observation

scientific article published in August 2013

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

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Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice

scientific article published in May 2003

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

scientific article published on 01 April 1991

Solving the Autism Puzzle a Few Pieces at a Time

scholarly article by Christian P. Schaaf & Huda Zoghbi published July 2011 in Neuron

Solving the autism puzzle a few pieces at a time

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Solving the puzzle of neurological diseases: an interview with Huda Zoghbi

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

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Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

scientific article published on 12 March 2008

Spinocerebellar Ataxia and Other Disorders of Trinucleotide Repeats

Spinocerebellar Ataxias

Spinocerebellar ataxia type 1

scientific article published on 01 February 1995

Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 1.

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Spinocerebellar ataxia type 10 is rare in populations other than Mexicans

scientific article published on 01 March 2002

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

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

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

scientific article published in June 1988

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

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Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

scientific article published on 19 February 2020

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities

scientific article published on March 2012

TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau.

scientific article published on 25 October 2016

TaqI polymorphism at the D6S91 locus

scientific article published in October 1990

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

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The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins

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The Atoh1-expressing cell lineage develops into both hair cells and supporting cells

The Basics of Translation

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The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis

scientific article published on July 1997

The Cerebellum and the Hereditary Ataxias

The Cerebellum and the Hereditary Ataxias

The Chromatin Modifier MSK1/2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development

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The DNA sequence of the human X chromosome

scientific article published on 17 March 2005

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

scholarly article

The Hereditary Ataxias

article

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

scientific journal article

The clinical and genetic spectrum of spinocerebellar ataxia 14

scientific article published on 01 April 2005

The effects of the polyglutamine repeat protein ataxin-1 on the UbL-UBA protein A1Up

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The expanding world of ataxins

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

article

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

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

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The hereditary ataxias

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

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

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The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination

scientific journal article

The role of chaperones in polyglutamine disease

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

scientific article

The story of Rett syndrome: from clinic to neurobiology

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

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The yin and yang of MeCP2 phosphorylation

scholarly article

The zinc finger transcription factor Gfi1, implicated in lymphomagenesis, is required for inner ear hair cell differentiation and survival

scientific journal article

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

scientific article

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

scientific article published on January 1996

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

scientific article

Transgenic Mouse Models of CAG Trinucleotide Repeat Neurologic Diseases

Trinucleotide Repeat Disorders

scientific article (publication date: July 2007)

Trinucleotide Repeat Disorders

article from 2006

Trinucleotide Repeat Expansions: Disorders

Trinucleotide repeat disorders in pediatrics

scientific article published on December 1995

Trinucleotide repeat disorders in pediatrics

Trinucleotide repeats: mechanisms and pathophysiology

scientific article

Two dinucleotide repeat polymorphisms at the D6S202 locus

scientific article published on November 1991

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

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atonal regulates neurite arborization but does not act as a proneural gene in the Drosophila brain

scientific article published in March 2000

dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1

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

scientific article

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

scholarly article by Nathanial Heintz & Huda Zoghbi published August 1997 in Nature Genetics

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