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

scientific article published on February 2013

An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.CELL.2013.01.038
P932PMC publication ID3641682
P698PubMed publication ID23452848
P5875ResearchGate publication ID235773949

P50authorHuda ZoghbiQ1633764
Olivier LichtargeQ61975468
P2093author name stringLin Chen
Steven Andrew Baker
Peng Yu
Angela Dawn Wilkins
P2860cites workRett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2Q22337290
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardationQ24296972
The death-associated protein DAXX is a novel histone chaperone involved in the replication-independent deposition of H3.3Q24315621
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complexQ24324026
MeCP2, a key contributor to neurological disease, activates and represses transcriptionQ24647533
ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndromeQ27670417
Chromatin compaction by human MeCP2. Assembly of novel secondary chromatin structures in the absence of DNA methylationQ28177120
The story of Rett syndrome: from clinic to neurobiologyQ28256549
Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndromeQ28257072
Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNAQ28265233
Distinct factors control histone variant H3.3 localization at specific genomic regionsQ28275277
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndromeQ28504458
MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatinQ28576622
Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndromeQ28595032
Reorganizing the protein space at the Universal Protein Resource (UniProt)Q29547338
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypesQ29616326
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in miceQ29616328
Reversal of neurological defects in a mouse model of Rett syndromeQ29616452
DNA recognition by the methyl-CpG binding domain of MeCP2.Q31465850
Loss of Atrx affects trophoblast development and the pattern of X-inactivation in extraembryonic tissuesQ33240549
HMGA1 down-regulation is crucial for chromatin composition and a gene expression profile permitting myogenic differentiationQ33654752
Unique physical properties and interactions of the domains of methylated DNA binding protein 2.Q33860692
Molecular-clinical spectrum of the ATR-X syndromeQ34306141
Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.Q35114553
Determinants of histone H1 mobility and chromatin binding in living cells.Q36484524
MECP2 mutations in males.Q36757032
Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.Q37001615
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.Q37162573
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamusQ37223275
Nuclear functions of the HMG proteinsQ37596093
Retroviral cDNA integration: stimulation by HMG I family proteinsQ39597653
DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG.Q40378884
Loss of ATRX leads to chromosome cohesion and congression defectsQ41825660
Early progressive encephalopathy in boys and MECP2 mutationsQ41919344
Multiple modes of interaction between the methylated DNA binding protein MeCP2 and chromatin.Q42952032
No correlation between phenotype and genotype in boys with a truncating MECP2 mutationQ43074531
ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.Q47407852
The disease progression of Mecp2 mutant mice is affected by the level of BDNF expressionQ48667829
Pairwise Statistical Significance of Local Sequence Alignment Using Sequence-Specific and Position-Specific Substitution MatricesQ51638339
An explanation for another familial case of Rett syndrome: maternal germline mosaicism.Q51756652
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.Q52087714
Reversible oligonucleosome self-association: dependence on divalent cations and core histone tail domainsQ71165591
MeCP2-chromatin interactions include the formation of chromatosome-like structures and are altered in mutations causing Rett syndromeQ80693217
P433issue5
P407language of work or nameEnglishQ1860
P921main subjectRett syndromeQ917357
P304page(s)984-996
P577publication date2013-02-01
P1433published inCellQ655814
P1476titleAn AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders
P478volume152

Reverse relations

cites work (P2860)
Q58608072A Novel Mecp2 Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome
Q39132989A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG-Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In Silico Investigations
Q36676822A critical period of vulnerability to adolescent stress: epigenetic mediators in mesocortical dopaminergic neurons
Q28771505A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations
Q36094434A high-resolution imaging approach to investigate chromatin architecture in complex tissues
Q55499199A mutation-led search for novel functional domains in MeCP2.
Q40545607A novel DNA-binding feature of MeCP2 contributes to Rett syndrome.
Q46016669A novel mutation R190H in the AT-hook 1 domain of MeCP2 identified in an atypical Rett syndrome.
Q37159793A/T Run Geometry of B-form DNA Is Independent of Bound Methyl-CpG Binding Domain, Cytosine Methylation and Flanking Sequence.
Q89738675Absence of MeCP2 binding to non-methylated GT-rich sequences in vivo
Q48156601Affective dysfunction in a mouse model of Rett syndrome: Therapeutic effects of environmental stimulation and physical activity
Q58697752Affinity for DNA Contributes to NLS Independent Nuclear Localization of MeCP2
Q46022392An RNA interference screen identifies druggable regulators of MeCP2 stability.
Q33983659Analysis of neonatal brain lacking ATRX or MeCP2 reveals changes in nucleosome density, CTCF binding and chromatin looping
Q56894959Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations
Q35595728Autism spectrum disorders: emerging mechanisms and mechanism-based treatment.
Q47636137Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome.
Q42030002By hook or by crook: multifaceted DNA-binding properties of MeCP2.
Q34890354Cell cycle-linked MeCP2 phosphorylation modulates adult neurogenesis involving the Notch signalling pathway
Q37534398Chromatin context and ncRNA highlight targets of MeCP2 in brain
Q58794852Chromatin-dependent allosteric regulation of DNMT3A activity by MeCP2
Q38375116Clinical and biological progress over 50 years in Rett syndrome.
Q46490716Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome
Q33907569Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnostics
Q37626764DNA methylation and childhood maltreatment: from animal models to human studies
Q37550088DNA methylation in the gene body influences MeCP2-mediated gene repression
Q34103956DNA methylation reader MECP2: cell type- and differentiation stage-specific protein distribution
Q26829214DNA modifications: function and applications in normal and disease States
Q36851443De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay
Q34466731Disruption of DNA-methylation-dependent long gene repression in Rett syndrome
Q55496089Early alteration of epigenetic-related transcription in Huntington's disease mouse models.
Q38662646Emerging roles of ATRX in cancer
Q37647937Epigenetics and the regulation of stress vulnerability and resilience
Q37249145Epigenetics, autism spectrum, and neurodevelopmental disorders.
Q55499041Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity.
Q39126183Functional assessment of MeCP2 in Rett syndrome and cancers of breast, colon, and prostate
Q88867776Genome-wide distribution of linker histone H1.0 is independent of MeCP2
Q92399774Genome-wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets
Q37372395Histone deacetylase 3 associates with MeCP2 to regulate FOXO and social behavior.
Q37598427Human pluripotent stem cell models of autism spectrum disorder: emerging frontiers, opportunities, and challenges towards neuronal networks in a dish
Q36049921Karyopherin α 3 and karyopherin α 4 proteins mediate the nuclear import of methyl-CpG binding protein 2
Q38992291Lessons learned from studying syndromic autism spectrum disorders
Q93187579Leveraging the genetic basis of Rett syndrome to ascertain pathophysiology
Q37681389Lipid rafts: a signaling platform linking cholesterol metabolism to synaptic deficits in autism spectrum disorders
Q30369619Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes
Q48654868Loss of neuronal 3D chromatin organization causes transcriptional and behavioural deficits related to serotonergic dysfunction
Q26799760MECP2 disorders: from the clinic to mice and back
Q41701539MECP2 impairs neuronal structure by regulating KIBRA.
Q36628976MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
Q38853829MECP2, a multi-talented modulator of chromatin architecture
Q33957193Maintaining genome stability in the nervous system
Q50068577MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro
Q50302685MeCP2 Binding Cooperativity Inhibits DNA Modification-Specific Recognition.
Q33809732MeCP2 Promotes Gastric Cancer Progression Through Regulating FOXF1/Wnt5a/β-Catenin and MYOD1/Caspase-3 Signaling Pathways
Q48841317MeCP2 R168X male and female mutant mice exhibit Rett-like behavioral deficits
Q45303510MeCP2 and CTCF: enhancing the cross-talk of silencers
Q35566873MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome
Q97650823MeCP2 links heterochromatin condensates and neurodevelopmental disease
Q83224338MeCP2 nuclear dynamics in live neurons results from low and high affinity chromatin interactions
Q33732160MeCP2 recognizes cytosine methylated tri-nucleotide and di-nucleotide sequences to tune transcription in the mammalian brain.
Q36008270MeCP2 regulates the timing of critical period plasticity that shapes functional connectivity in primary visual cortex
Q50993055MeCP2, A Modulator of Neuronal Chromatin Organization Involved in Rett Syndrome.
Q41228798MeCP2, a target of miR-638, facilitates gastric cancer cell proliferation through activation of the MEK1/2-ERK1/2 signaling pathway by upregulating GIT1.
Q55002845MeCP2-mediated epigenetic regulation in senescent endothelial progenitor cells.
Q90133350MeCP2: A Critical Regulator of Chromatin in Neurodevelopment and Adult Brain Function
Q33878027Methyl-CpG binding domain protein 1 regulates localization and activity of Tet1 in a CXXC3 domain-dependent manner.
Q28271310Mice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects
Q30357465Microglia contribute to circuit defects in Mecp2 null mice independent of microglia-specific loss of Mecp2 expression
Q89602927Nuclear receptor corepressors in intellectual disability and autism
Q39132984Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome
Q41919307Radically truncated MeCP2 rescues Rett syndrome-like neurological defects.
Q35699206Reading the unique DNA methylation landscape of the brain: Non-CpG methylation, hydroxymethylation, and MeCP2.
Q36540413Reduction of aberrant NF-κB signalling ameliorates Rett syndrome phenotypes in Mecp2-null mice
Q30378674Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome.
Q38194967Rett syndrome and MeCP2.
Q55312256Rett syndrome from bench to bedside: recent advances.
Q89948341Rett syndrome-causing mutations compromise MeCP2-mediated liquid-liquid phase separation of chromatin
Q38366899Rett syndrome: a complex disorder with simple roots
Q50422613Rett syndrome: a neurological disorder with metabolic components.
Q28088283Rett syndrome: disruption of epigenetic control of postnatal neurological functions
Q88609435Rett syndrome: insights into genetic, molecular and circuit mechanisms
Q33915332Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice
Q28909718SUMOylation of MeCP2 is essential for transcriptional repression and hippocampal synapse development
Q36765190Sequence features accurately predict genome-wide MeCP2 binding in vivo.
Q42393391Sequence-specific DNA binding by AT-hook motifs in MeCP2.
Q57462271Species and cell-type properties of classically defined human and rodent neurons and glia
Q92587258Structural investigation of Rett-inducing MeCP2 mutations
Q33737461The Crucial Role of DNA Methylation and MeCP2 in Neuronal Function
Q53158422The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
Q90401570The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2
Q90202348The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis
Q40756726The extended AT-hook is a novel RNA binding motif.
Q38220786The neuronal activity-driven transcriptome.
Q39296630Transcribing the connectome: roles for transcription factors and chromatin regulators in activity-dependent synapse development
Q37281126Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome
Q96610148Transcriptome data of temporal and cingulate cortex in the Rett syndrome brain
Q64081306Transcriptomic Analysis of Mutant Mice Reveals Differentially Expressed Genes and Altered Mechanisms in Both Blood and Brain
Q38307079Unusual characteristics of the DNA binding domain of epigenetic regulatory protein MeCP2 determine its binding specificity
Q42833216Up-regulation of HP1γ expression during neuronal maturation promotes axonal and dendritic development in mouse embryonic neocortex
Q90173981Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome
Q58700147genetically interacts with the ALS-associated orthologue and mediates its toxicity

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