HUDA ZOGHBI to Mutation
This is a "connection" page, showing publications HUDA ZOGHBI has written about Mutation.
Connection Strength
3.101
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Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies. Lancet Neurol. 2020 08; 19(8):689-698.
Score: 0.246
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 2018 02 22; 172(5):924-936.e11.
Score: 0.208
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Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Elife. 2014 Jun 26; 3.
Score: 0.161
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MeCP2: only 100% will do. Nat Neurosci. 2012 Jan 26; 15(2):176-7.
Score: 0.137
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The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 08; 56(3):422-37.
Score: 0.102
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Single-nucleus profiling reveals a core disease signature and cell type-specific vulnerabilities in early Rett syndrome. Sci Adv. 2026 Jun 12; 12(24):eaeb4265.
Score: 0.092
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Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome. Sci Transl Med. 2026 Mar 04; 18(839):eadq4529.
Score: 0.091
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MeCP2 dysfunction in humans and mice. J Child Neurol. 2005 Sep; 20(9):736-40.
Score: 0.088
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Alpha-Synuclein Phosphomimetic Y39E and S129D Knock-In Mice Show Cytosolic Alpha-Synuclein Localization without Developing Neurodegeneration or Motor Deficits. eNeuro. 2025 Apr; 12(4).
Score: 0.085
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Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr; 10(2):118-28.
Score: 0.079
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A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels. Genes Dev. 2023 10 01; 37(19-20):883-900.
Score: 0.077
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Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1. Neuron. 2023 02 15; 111(4):481-492.e8.
Score: 0.073
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Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002 Jul 18; 35(2):243-54.
Score: 0.071
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Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. 2001 Dec; 23 Suppl 1:S147-51.
Score: 0.068
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Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol. 2001 Apr; 14(2):171-6.
Score: 0.065
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miR760 regulates ATXN1 levels via interaction with its 5' untranslated region. Genes Dev. 2020 09 01; 34(17-18):1147-1160.
Score: 0.062
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Methyl-CpG-binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev. 2000 Jun; 10(3):275-9.
Score: 0.061
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Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders. Neuroscience. 2020 10 01; 445:190-206.
Score: 0.061
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Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet. 2000; 97(2):147-52.
Score: 0.059
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The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis. Curr Opin Neurobiol. 2019 12; 59:180-188.
Score: 0.058
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Loss of Capicua alters early T cell development and predisposes mice to T cell lymphoblastic leukemia/lymphoma. Proc Natl Acad Sci U S A. 2018 02 13; 115(7):E1511-E1519.
Score: 0.052
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Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci. 2016 10 26; 19(11):1408-1417.
Score: 0.047
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Rett Syndrome and the Ongoing Legacy of Close Clinical Observation. Cell. 2016 Oct 06; 167(2):293-297.
Score: 0.047
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Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model. Neuron. 2016 Aug 17; 91(4):739-747.
Score: 0.047
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct; 16(10):751-8.
Score: 0.040
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Brief report: MECP2 mutations in people without Rett syndrome. J Autism Dev Disord. 2014 Mar; 44(3):703-11.
Score: 0.039
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Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nat Genet. 2012 Jan 08; 44(2):206-11.
Score: 0.034
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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 Sep 01; 20(17):3366-75.
Score: 0.033
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Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development. J Child Neurol. 2011 Mar; 26(3):288-94.
Score: 0.032
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Neurogenetics: advancing the "next-generation" of brain research. Neuron. 2010 Oct 21; 68(2):165-73.
Score: 0.031
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SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron. 2010 Sep 23; 67(6):929-35.
Score: 0.031
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Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels. Proc Natl Acad Sci U S A. 2008 Aug 19; 105(33):11987-92.
Score: 0.027
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Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008 Apr 15; 70(16):1313-21.
Score: 0.026
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Trinucleotide repeat disorders. Annu Rev Neurosci. 2007; 30:575-621.
Score: 0.024
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ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell. 2006 Dec 29; 127(7):1335-47.
Score: 0.024
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Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2006 Nov 28; 103(48):18267-72.
Score: 0.024
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Huntingtin's critical cleavage. Nat Neurosci. 2006 Sep; 9(9):1088-9.
Score: 0.023
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MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev. 2006 Jun; 16(3):276-81.
Score: 0.023
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Using the linear references from the pangenome to discover missing autism variants. Nat Commun. 2026 Jan 23; 17(1):1681.
Score: 0.023
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Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci. 2006 Jan 04; 26(1):319-27.
Score: 0.022
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Diseases of unstable repeat expansion: mechanisms and common principles. Nat Rev Genet. 2005 Oct; 6(10):743-55.
Score: 0.022
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The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology. 2005 Apr 12; 64(7):1258-60.
Score: 0.021
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Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet. 2005 Feb; 42(2):e15.
Score: 0.021
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Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet. 2005 Jan 15; 14(2):205-20.
Score: 0.021
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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004 Nov 01; 13(21):2679-89.
Score: 0.020
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X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. Am J Hum Genet. 2004 Mar; 74(3):511-20.
Score: 0.020
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Postnatal neurodevelopmental disorders: meeting at the synapse? Science. 2003 Oct 31; 302(5646):826-30.
Score: 0.019
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Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1. Cell. 2003 May 16; 113(4):457-68.
Score: 0.019
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Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet. 2002 Dec; 71(6):1259-72.
Score: 0.018
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Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet. 2002 Aug 01; 111(2):164-8.
Score: 0.018
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Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders. Proc Natl Acad Sci U S A. 2022 01 25; 119(4).
Score: 0.017
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Amino acids in a region of ataxin-1 outside of the polyglutamine tract influence the course of disease in SCA1 transgenic mice. Neuromolecular Med. 2002; 1(1):33-42.
Score: 0.017
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Introduction: Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):59-60.
Score: 0.017
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Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet. 2000 Dec; 67(6):1428-36.
Score: 0.016
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Trinucleotide repeats: mechanisms and pathophysiology. Annu Rev Genomics Hum Genet. 2000; 1:281-328.
Score: 0.015
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Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet. 1999 Dec; 65(6):1520-9.
Score: 0.015
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Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron. 1999 Dec; 24(4):879-92.
Score: 0.015
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Expanding our understanding of polyglutamine diseases through mouse models. Neuron. 1999 Nov; 24(3):499-502.
Score: 0.015
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct; 23(2):185-8.
Score: 0.015
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Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. Genomics. 1997 Dec 01; 46(2):268-77.
Score: 0.013
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CAG repeats in SCA6. Anticipating new clues. Neurology. 1997 Nov; 49(5):1196-9.
Score: 0.013
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The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature. 1997 Oct 30; 389(6654):974-8.
Score: 0.013
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The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia. Neurology. 1997 Oct; 49(4):1009-13.
Score: 0.013
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The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis. Brain Pathol. 1997 Jul; 7(3):927-42.
Score: 0.012
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The expanding world of ataxins. Nat Genet. 1996 Nov; 14(3):237-8.
Score: 0.012
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Trinucleotide repeat disorders in pediatrics. Curr Opin Pediatr. 1995 Dec; 7(6):715-25.
Score: 0.011
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Characterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factor. J Neurosci. 2015 Apr 08; 35(14):5870-83.
Score: 0.011
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Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels. Cell. 2015 Mar 12; 160(6):1087-98.
Score: 0.011
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Purkinje cell ataxin-1 modulates climbing fiber synaptic input in developing and adult mouse cerebellum. J Neurosci. 2013 Mar 27; 33(13):5806-20.
Score: 0.009
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The role of LANP and ataxin 1 in E4F-mediated transcriptional repression. EMBO Rep. 2007 Jul; 8(7):671-7.
Score: 0.006
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Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1. J Neurochem. 2007 Sep; 102(6):2040-2048.
Score: 0.006
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A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell. 2006 May 19; 125(4):801-14.
Score: 0.006
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Identification of a novel phosphorylation site in ataxin-1. Biochim Biophys Acta. 2005 May 15; 1744(1):11-8.
Score: 0.005
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Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice. J Neurosci. 2004 Oct 06; 24(40):8853-61.
Score: 0.005
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A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol Cell. 2003 Aug; 12(2):425-35.
Score: 0.005
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Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice. Neuron. 2003 May 08; 38(3):375-87.
Score: 0.005
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The role of Math1 in inner ear development: Uncoupling the establishment of the sensory primordium from hair cell fate determination. Development. 2002 May; 129(10):2495-505.
Score: 0.004
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Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature. 1997 Oct 30; 389(6654):971-4.
Score: 0.003
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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. J Neurosci. 1997 Oct 01; 17(19):7385-95.
Score: 0.003
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Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan; 15(1):62-9.
Score: 0.003
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Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet. 1991 Sep 01; 40(3):354-64.
Score: 0.002