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ZOGHBI, HUDA

One or more keywords matched the following items that are connected to ZOGHBI, HUDA

Item Type	Name
Academic Article	A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration.
Academic Article	Mapmodulin/leucine-rich acidic nuclear protein binds the light chain of microtubule-associated protein 1B and modulates neuritogenesis.
Academic Article	Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice.
Academic Article	The effects of the polyglutamine repeat protein ataxin-1 on the UbL-UBA protein A1Up.
Academic Article	Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice.
Academic Article	Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice.
Academic Article	Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.
Academic Article	Scientific and technological synergy: Baylor College of Medicine and the Mental Retardation Research Center.
Academic Article	Identification of a novel phosphorylation site in ataxin-1.
Academic Article	Modelling brain diseases in mice: the challenges of design and analysis.
Academic Article	Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1.
Academic Article	Math1 expression redefines the rhombic lip derivatives and reveals novel lineages within the brainstem and cerebellum.
Academic Article	Gfi1 functions downstream of Math1 to control intestinal secretory cell subtype allocation and differentiation.
Academic Article	Prenylcysteine carboxylmethyltransferase is essential for the earliest stages of liver development in mice.
Academic Article	Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.
Academic Article	Mouse and fly models of neurodegeneration.
Academic Article	Dissection of the cellular and molecular events that position cerebellar Purkinje cells: a study of the math1 null-mutant mouse.
Academic Article	A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos.
Academic Article	Huntingtin's critical cleavage.
Academic Article	Molecular neuroscience: BAC-to-BAC images of the brain.
Academic Article	RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice.
Academic Article	SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.
Academic Article	MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number.
Academic Article	Mice lacking Tropomodulin-2 show enhanced long-term potentiation, hyperactivity, and deficits in learning and memory.
Academic Article	dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1.
Academic Article	miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis.
Academic Article	Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.
Academic 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.
Academic Article	Phosphorylation of ATXN1 at Ser776 in the cerebellum.
Academic Article	Merkel cells are essential for light-touch responses.
Academic Article	Atoh1-lineal neurons are required for hearing and for the survival of neurons in the spiral ganglion and brainstem accessory auditory nuclei.
Academic Article	Deletion of Atoh1 disrupts Sonic Hedgehog signaling in the developing cerebellum and prevents medulloblastoma.
Academic Article	Excitatory neurons of the proprioceptive, interoceptive, and arousal hindbrain networks share a developmental requirement for Math1.
Academic Article	Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.
Academic Article	MeCP2 dysfunction in humans and mice.
Academic Article	Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration.
Academic Article	Protein interactome reveals converging molecular pathways among autism disorders.
Academic Article	The DNA sequence of the human X chromosome.
Academic Article	In vivo neuronal subtype-specific targets of Atoh1 (Math1) in dorsal spinal cord.
Academic Article	SUMOylation of the polyglutamine repeat protein, ataxin-1, is dependent on a functional nuclear localization signal.
Academic Article	ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization.
Academic Article	MeCP2: only 100% will do.
Academic Article	The AXH domain of Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins.
Academic Article	Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood.
Academic Article	ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology.
Academic Article	Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction.
Academic Article	RAS-MAPK-MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1.
Academic Article	A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
Academic Article	The role of LANP and ataxin 1 in E4F-mediated transcriptional repression.
Academic Article	CHIP protects from the neurotoxicity of expanded and wild-type ataxin-1 and promotes their ubiquitination and degradation.
Academic Article	Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis.
Academic Article	Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome.
Academic Article	The story of Rett syndrome: from clinic to neurobiology.
Academic Article	Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes.
Academic Article	The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7.
Academic Article	Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1.
Academic Article	Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1.
Academic Article	A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.
Academic Article	Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels.
Academic Article	Genetic modifiers of MeCP2 function in Drosophila.
Academic Article	Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.
Academic Article	Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1.
Academic Article	Identification and subclassification of new Atoh1 derived cell populations during mouse spinal cord development.
Academic Article	Rett syndrome: what do we know for sure?
Academic Article	Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.
Academic Article	Math1 is essential for the development of hindbrain neurons critical for perinatal breathing.
Academic Article	Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities.
Academic Article	Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis.
Academic Article	Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.
Academic Article	In vivo Atoh1 targetome reveals how a proneural transcription factor regulates cerebellar development.
Academic Article	Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model.
Academic Article	Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua.
Academic Article	Neurogenetics: advancing the "next-generation" of brain research.
Academic Article	Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
Academic Article	Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.
Academic Article	Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses.
Academic Article	14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus.
Academic Article	Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum.
Academic Article	Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome.
Academic Article	Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.
Academic Article	An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.
Academic Article	Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation.
Academic Article	Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice.
Academic Article	Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice.
Academic Article	Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1.
Academic Article	Postnatal neurodevelopmental disorders: meeting at the synapse?
Academic Article	Aberrant myofibril assembly in tropomodulin1 null mice leads to aborted heart development and embryonic lethality.
Academic Article	X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.
Academic Article	Generation and characterization of LANP/pp32 null mice.
Academic Article	Rett syndrome: a prototypical neurodevelopmental disorder.
Academic Article	A cell-based screen for modulators of ataxin-1 phosphorylation.
Academic Article	Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.
Academic Article	SILencing misbehaving proteins.
Academic Article	Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome.
Academic Article	MeCP2 dysfunction in Rett syndrome and related disorders.
Academic Article	Getting back to basics.
Academic Article	Trinucleotide repeat disorders.
Academic Article	Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model.
Academic Article	Intestine-specific ablation of mouse atonal homolog 1 (Math1) reveals a role in cellular homeostasis.
Academic Article	The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors.
Academic Article	MeCP2, a key contributor to neurological disease, activates and represses transcription.
Academic Article	Characterization of the zebrafish atxn1/axh gene family.
Academic Article	The yin and yang of MeCP2 phosphorylation.
Academic Article	SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776.
Academic Article	Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model.
Academic Article	Adult neural function requires MeCP2.
Academic Article	Preclinical research in Rett syndrome: setting the foundation for translational success.
Academic Article	Ataxin1L is a regulator of HSC function highlighting the utility of cross-tissue comparisons for gene discovery.
Concept	Disease Models, Animal
Concept	Animals, Newborn
Concept	Wings, Animal
Concept	Animals
Concept	Models, Animal
Concept	Vocalization, Animal
Concept	Behavior, Animal
Concept	Animals, Genetically Modified
Academic Article	Polyglutamine disease toxicity is regulated by Nemo-like kinase in spinocerebellar ataxia type 1.
Academic Article	Pharmacometabolomic signature of ataxia SCA1 mouse model and lithium effects.
Academic Article	SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.
Academic Article	Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome.
Academic Article	Atoh1-dependent rhombic lip neurons are required for temporal delay between independent respiratory oscillators in embryonic mice.
Academic Article	Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice.
Academic Article	Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice.
Academic Article	Deep brain stimulation for Parkinson disease: the 2014 Lasker-DeBakey Clinical Medical Research Award.
Academic Article	Deficiency of Capicua disrupts bile acid homeostasis.
Academic Article	Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels.
Academic Article	Characterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factor.
Academic Article	MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome.
Academic Article	Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides.
Academic Article	Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice.
Academic Article	A native interactor scaffolds and stabilizes toxic ATAXIN-1 oligomers in SCA1.
Academic Article	MECP2 disorders: from the clinic to mice and back.
Academic Article	Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes.
Academic Article	Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders.
Academic Article	Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome.
Academic Article	Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model.
Academic Article	Ataxin-1 oligomers induce local spread of pathology and decreasing them by passive immunization slows Spinocerebellar ataxia type 1 phenotypes.
Academic Article	Post-translational Control of the Temporal Dynamics of Transcription Factor Activity Regulates Neurogenesis.
Academic Article	Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways.
Academic Article	Reduction of Nuak1 Decreases Tau and Reverses Phenotypes in a Tauopathy Mouse Model.
Academic Article	Lessons learned from studying syndromic autism spectrum disorders.
Academic Article	Neurodegeneration: From cellular concepts to clinical applications.
Academic Article	The Chromatin Modifier MSK1/2 Suppresses Endocrine Cell Fates during Mouse Pancreatic Development.
Academic Article	Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models.
Academic Article	An Anatomically Resolved Mouse Brain Proteome Reveals Parkinson Disease-relevant Pathways.
Academic Article	TRIM28 regulates the nuclear accumulation and toxicity of both alpha-synuclein and tau.
Academic Article	Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.
Academic Article	Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn.
Academic Article	Solving the puzzle of neurological diseases: an interview with Huda Zoghbi.
Academic Article	A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Academic Article	Motor neuron degeneration correlates with respiratory dysfunction in SCA1.
Academic Article	Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity.
Academic Article	Jak2-mediated phosphorylation of Atoh1 is critical for medulloblastoma growth.
Academic Article	Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma.
Academic Article	Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.
Academic Article	ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism.
Academic Article	An Atoh1-S193A Phospho-Mutant Allele Causes Hearing Deficits and Motor Impairment.
Academic Article	An RNA interference screen identifies druggable regulators of MeCP2 stability.
Academic Article	A Druggable Genome Screen Identifies Modifiers of a-Synuclein Levels via a Tiered Cross-Species Validation Approach.
Academic Article	Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model.
Academic Article	PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1.
Academic Article	Depleting Trim28 in adult mice is well tolerated and reduces levels of a-synuclein and tau.
Academic Article	Genome-wide distribution of linker histone H1.0 is independent of MeCP2.
Academic Article	Loss of Atoh1 from neurons regulating hypoxic and hypercapnic chemoresponses causes neonatal respiratory failure in mice.
Academic Article	Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations.
Academic Article	Increased Axonal Bouton Stability during Learning in the Mouse Model of MECP2 Duplication Syndrome.
Academic Article	Impaired spatial memory codes in a mouse model of Rett syndrome.
Academic Article	Mouse models as a tool for discovering new neurological diseases.
Academic Article	Cross-species genetic screens to identify kinase targets for APP reduction in Alzheimer's disease.
Academic Article	Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles.
Academic Article	A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability.
Academic Article	An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function.
Grant	NRI Build-out: Advancing Translational Brain Research
Grant	Baylor Intellectual and Developmental Disabilities Research Center
Academic Article	RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins.
Academic Article	Loss of Ataxin-1 Potentiates Alzheimer's Pathogenesis by Elevating Cerebral BACE1 Transcription.
Academic Article	Neurexophilin4 is a selectively expressed a-neurexin ligand that modulates specific cerebellar synapses and motor functions.
Academic Article	Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex.
Academic Article	Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
Academic Article	Doublecortin-like Kinase 1 Regulates a-Synuclein Levels and Toxicity.
Academic Article	Development of the brainstem respiratory circuit.
Academic Article	Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.
Academic Article	Optimizing Nervous System-Specific Gene Targeting with Cre Driver Lines: Prevalence of Germline Recombination and Influencing Factors.
Academic Article	Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy.
Academic Article	Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome.
Academic Article	Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation.
Academic Article	PolyA-miner: accurate assessment of differential alternative poly-adenylation from 3'Seq data using vector projections and non-negative matrix factorization.
Academic Article	miR760 regulates ATXN1 levels via interaction with its 5' untranslated region.
Academic Article	MeCP2 Levels Regulate the 3D Structure of Heterochromatic Foci in Mouse Neurons.
Academic Article	Excessive Formation and Stabilization of Dendritic Spine Clusters in the MECP2-Duplication Syndrome Mouse Model of Autism.
Academic Article	Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice.
Academic Article	Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1.
Academic Article	Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome.
Academic Article	Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1.
Academic Article	Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions.
Academic Article	Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome.
Academic Article	Inhibition of Elevated Ras-MAPK Signaling Normalizes Enhanced Motor Learning and Excessive Clustered Dendritic Spine Stabilization in the MECP2-Duplication Syndrome Mouse Model of Autism.
Academic Article	Maturation of Purkinje cell firing properties relies on neurogenesis of excitatory neurons.
Academic Article	A weakened recurrent circuit in the hippocampus of Rett syndrome mice disrupts long-term memory representations.
Academic Article	Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model.
Academic Article	Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.
Academic Article	Cross-species genetic screens identify transglutaminase 5 as a regulator of polyglutamine-expanded ataxin-1.
Academic Article	Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles.
Academic Article	Evolutionarily conserved regulators of tau identify targets for new therapies.
Academic Article	Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1.
Academic Article	MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function.
Academic Article	Atoh1 drives the heterogeneity of the pontine nuclei neurons and promotes their differentiation.
Academic Article	A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels.
Academic Article	The Atoh1-Cre Knock-In Allele Ectopically Labels a Subpopulation of Amacrine Cells and Bipolar Cells in Mouse Retina.
Academic Article	Longitudinal single-cell transcriptional dynamics throughout neurodegeneration in SCA1.

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