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Lista de obras de Huda Zoghbi

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 1994

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

artículo científico publicado en 2005

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

artículo científico publicado en 1991

A de novo X;3 translocation in Rett syndrome

artículo científico publicado en 1990

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

artículo científico publicado en 1994

A high resolution deletion map of human chromosome Xp22.

artículo científico publicado en 1993

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

artículo científico publicado en 1988

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

artículo científico publicado en 2019

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

artículo científico publicado en 2002

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

artículo científico publicado en 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 1997

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2004

Acute effect of glycerol on net cerebrospinal fluid production in dogs

artículo científico publicado en 1985

Adult neural function requires MeCP2.

artículo científico publicado en 2011

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

artículo científico publicado en 2001

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

artículo científico publicado en 2002

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

artículo científico publicado en 2013

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

artículo científico

An RNA interference screen identifies druggable regulators of MeCP2 stability.

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 1992

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

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 1998

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

artículo científico publicado en 2021

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

artículo científico publicado en 2018

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

artículo científico publicado en 1989

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

artículo científico publicado en 1998

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

artículo científico publicado en 2015

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

artículo científico publicado en 1997

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 1986

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

artículo científico publicado en 2009

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

artículo científico

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

artículo científico publicado en 1997

Balanced X chromosome inactivation patterns in the Rett syndrome brain

artículo científico publicado en 2002

BclI and MspI polymorphisms at the D6S90 locus

artículo científico publicado en 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

artículo científico publicado en 2014

CAG Repeats in SCA6: Anticipating new clues

artículo científico publicado en 1997

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

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

artículo científico publicado en 2001

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

artículo científico publicado en 2000

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome

artículo científico publicado en 1989

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

artículo científico publicado en 1998

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

artículo científico publicado en 1998

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

artículo científico publicado en 1999

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

artículo científico publicado en 2015

Characterization of the zebrafish atxn1/axh gene family

artículo científico publicado en 2008

Childhood disorders of the synapse: challenges and opportunities

artículo científico publicado en 2012

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

artículo científico publicado en 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)

artículo científico publicado en 1996

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

artículo científico publicado en 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

artículo científico publicado en 1998

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico

Deficiency of Capicua disrupts bile acid homeostasis

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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.

artículo científico publicado en 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

artículo científico publicado en 2000

Dinucleotide repeat polymorphism at the D6S105 locus

artículo científico publicado en 1991

Dinucleotide repeat polymorphism at the D6S109 locus

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2002

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

artículo científico publicado en 2021

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

Editorial overview: Surprises still in store

Enhanced SUMOylation in polyglutamine diseases

artículo científico publicado en 2002

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.

artículo científico publicado en 2016

Epigenetics of Psychiatric Diseases

Epigenetics of Psychiatric Diseases

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

artículo científico publicado en 1998

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

artículo científico publicado en 1993

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

artículo científico publicado en 1996

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

artículo científico publicado el 1 de febrero de 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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua

artículo científico publicado en 2011

Expanding our understanding of polyglutamine diseases through mouse models

artículo científico publicado en 1999

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

artículo científico publicado en 1993

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

artículo científico publicado en 1995

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.

artículo científico publicado en 1988

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

artículo científico publicado en 2016

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 1991

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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice

artículo científico publicado en 2015

Fourteen and counting: unraveling trinucleotide repeat diseases

artículo científico publicado en 2000

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

artículo científico publicado en 2014

From anatomy to electrophysiology: clinical Lasker goes deep

artículo científico publicado en 2014

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

artículo científico publicado en 2000

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

artículo científico publicado en 2000

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

artículo científico publicado en 1995

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

artículo científico publicado en 2011

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

artículo científico publicado en 2004

Generation and characterization of LANP/pp32 null mice

artículo científico publicado en 2004

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

artículo científico publicado en 2001

Genetic aspects of Rett syndrome

artículo científico publicado en 1988

Genetic basis of Rett syndrome

artículo científico publicado en 2002

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

artículo científico publicado en 2008

Genetic regulation of cerebellar development

artículo científico publicado en 2001

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

artículo científico publicado en 2018

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

artículo científico publicado en 2001

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

artículo científico publicado en 1998

Getting back to basics

artículo científico publicado en 2006

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

artículo científico publicado en 2005

Glutamine repeats and neurodegeneration

artículo científico publicado en 2000

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

artículo científico publicado en 2006

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Huntingtin's critical cleavage

artículo científico publicado en 2006

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

artículo científico publicado en 2000

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

artículo científico publicado en 1994

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

artículo científico publicado en 2008

Identification of a novel phosphorylation site in ataxin-1.

artículo científico publicado en 2004

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

artículo científico publicado en 1992

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

artículo científico publicado en 1997

Identification of genes that modify ataxin-1-induced neurodegeneration

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 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.

artículo científico publicado en 2001

Increased trinucleotide repeat instability with advanced maternal age.

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2000

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

artículo científico publicado en 2020

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

artículo científico publicado en 2003

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

artículo científico publicado en 2007

Introduction: Rett syndrome

article published in 2002

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

artículo científico publicado en 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

artículo científico publicado en 1992

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2000

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

artículo científico publicado en 2016

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

artículo científico publicado en 1991

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)

artículo científico publicado en 1991

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

artículo científico publicado en 1988

Linkage studies in dominantly inherited ataxias.

artículo científico publicado en 1993

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

artículo científico publicado en 2007

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2002

MECP2 disorders: from the clinic to mice and back

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 1993

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

artículo científico publicado en 1988

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

artículo científico publicado en 1991

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

artículo científico publicado en 1997

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number

scientific journal article

MeCP2 dysfunction in Rett syndrome and related disorders

artículo científico publicado en 2006

MeCP2 dysfunction in humans and mice

artículo científico publicado en 2005

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

artículo científico publicado en 2008

MeCP2: only 100% will do.

artículo científico publicado en 2012

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

artículo científico publicado en 2019

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

artículo científico publicado en 2010

Mental retardation: X marks the spot

artículo científico publicado en 2003

Merkel cells are essential for light-touch responses

artículo científico publicado en 2009

Methyl-CpG-binding protein 2 mutations in Rett syndrome

artículo científico publicado en 2000

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

artículo científico publicado en 1992

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

artículo científico publicado en 2002

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

artículo científico publicado en 1994

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice

artículo científico publicado en 2004

Modeling polyglutamine pathogenesis in mice: SCA1

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

artículo científico publicado en 2003

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

artículo científico publicado en 1998

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

artículo científico publicado en 1993

Molecular genetics and neurobiology of neurodegenerative and neurodevelopmental disorders

artículo científico publicado en 1997

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations

artículo científico publicado en 2001

Molecular genetics of hereditary ataxias

article

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

artículo científico publicado en 2003

Motor neuron degeneration correlates with respiratory dysfunction in SCA1.

artículo científico publicado en 2018

Mouse and fly models of neurodegeneration

artículo científico publicado en 2002

Mouse models as a tool for discovering new neurological diseases

artículo científico publicado en 2018

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

artículo científico publicado en 2009

MspI and MboI polymorphisms at the DXS704 locus

artículo científico publicado en 1991

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

artículo científico publicado en 1998

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

artículo científico publicado en 1999

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

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

artículo científico publicado en 2005

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

artículo científico publicado en 2001

NR2F1 mutations cause optic atrophy with intellectual disability.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Neurobiology of disease

artículo científico publicado en 2000

Neurodegeneration: From cellular concepts to clinical applications

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2005

Neuropathology of Rett syndrome

scientific article published on 01 January 1988

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 1993

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

artículo científico publicado en 2018

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

artículo científico publicado en 2001

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

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

artículo científico publicado en 1999

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

artículo científico publicado en 2009

Pathophysiology of SCA1

Patterns of X chromosome inactivation in the Rett syndrome

artículo científico publicado en 1990

Pharmacometabolomic signature of ataxia SCA1 mouse model and lithium effects

artículo científico publicado en 2013

Phosphorylation of ATXN1 at Ser776 in the cerebellum

artículo científico publicado en 2009

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

artículo científico publicado en 1992

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

artículo científico publicado en 2013

Polyglutamine diseases: protein cleavage and aggregation.

artículo científico publicado en 1999

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

artículo científico publicado en 2000

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Postnatal Neurodevelopmental Disorders: Meeting at the Synapse? ⬇️

artículo científico publicado el 31 de octubre de 2003

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

artículo científico publicado en 2012

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.

artículo científico publicado en 1999

Proprioceptor pathway development is dependent on Math1.

artículo científico publicado en 2001

Protein interactome reveals converging molecular pathways among autism disorders

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 1997

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 1990

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2001

Reduction of biogenic amine levels in the Rett syndrome

artículo científico publicado en 1985

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

artículo científico publicado en 2003

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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2001

Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 1995

Rett Syndrome and the Ongoing Legacy of Close Clinical Observation

artículo científico publicado en 2016

Rett syndrome and MeCP2: linking epigenetics and neuronal function

artículo científico publicado en 2002

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

artículo científico publicado en 1999

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

artículo científico publicado en 1999

Rett syndrome: a prototypical neurodevelopmental disorder

artículo científico publicado en 2004

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

artículo científico publicado en 1994

Rett syndrome: discrimination of typical and variant forms

artículo científico publicado en 1987

Rett syndrome: disruption of epigenetic control of postnatal neurological functions

artículo científico publicado en 2015

Rett syndrome: initial experience with an emerging clinical entity

artículo científico publicado en 1985

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

artículo científico publicado en 2000

Rett syndrome: qualitative and quantitative differentiation from autism

artículo científico publicado en 1988

Rett syndrome: what do we know for sure?

artículo científico publicado en 2009

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

artículo científico publicado en 1987

Rett's syndrome: characterization of respiratory patterns and sleep

artículo científico publicado en 1987

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Reversing neurodegeneration: a promise unfolds

artículo científico publicado en 2000

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

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

artículo científico publicado en 2001

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.

artículo científico publicado en 2010

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

artículo científico publicado en 2003

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

artículo científico publicado en 2013

SILencing misbehaving proteins

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

artículo científico publicado en 2005

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

artículo científico publicado en 2002

Scientists. Curiosity and observation

artículo científico publicado en 2013

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

artículo científico publicado en 2000

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2004

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

artículo científico publicado en 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.

artículo científico publicado en 1995

Spinocerebellar ataxia type 10 is rare in populations other than Mexicans

artículo científico publicado en 2002

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

artículo científico publicado en 2008

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

artículo científico publicado en 1996

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

artículo científico publicado en 1988

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

TaqI polymorphism at the D6S91 locus

artículo científico publicado en 1990

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

artículo científico publicado en 2000

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

artículo científico publicado en 2005

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

The Basics of Translation ⬇️

artículo científico publicado el 18 de enero de 2013

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

artículo científico publicado en 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

artículo científico publicado en 2016

The DNA sequence of the human X chromosome

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 1991

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

artículo científico publicado en 1993

The hereditary ataxias

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

scientific journal article

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

artículo científico publicado en 2007

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

artículo científico publicado en 2002

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

artículo científico publicado en 2001

The story of Rett syndrome: from clinic to neurobiology

artículo científico publicado en 2007

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

artículo científico publicado en 1995

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

artículo científico publicado en 1991

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

artículo científico publicado en 1996

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

artículo científico publicado en 2005

Transgenic Mouse Models of CAG Trinucleotide Repeat Neurologic Diseases

Trinucleotide Repeat Disorders

artículo científico publicado en 2007

Trinucleotide Repeat Disorders

article from 2006

Trinucleotide Repeat Expansions: Disorders

Trinucleotide repeat disorders in pediatrics

artículo científico publicado en 1995

Trinucleotide repeat disorders in pediatrics

Trinucleotide repeats: mechanisms and pathophysiology

artículo científico publicado en 2000

Two dinucleotide repeat polymorphisms at the D6S202 locus

artículo científico publicado en 1991

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

artículo científico publicado en 2004

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

artículo científico publicado en 2000

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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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