Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions.
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Solution structure and dynamic analysis of chicken MBD2 methyl binding domain bound to a target-methylated DNA sequenceDendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutationsTargeted manipulation of heterochromatin rescues MeCP2 Rett mutants and re-establishes higher order chromatin organization.MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapyDevelopment of a Novel AAV Gene Therapy Cassette with Improved Safety Features and Efficacy in a Mouse Model of Rett SyndromeUnique physical properties and interactions of the domains of methylated DNA binding protein 2.Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnosticsPopulation- and family-based studies associate the MTHFR gene with idiopathic autism in simplex families.MeCP2 binds cooperatively to its substrate and competes with histone H1 for chromatin binding sitesMTHFR Gene C677T Polymorphism in Autism Spectrum DisordersThe role of genetics in the establishment and maintenance of the epigenome.Experimental models of Rett syndrome based on Mecp2 dysfunction.Binding of the Rett syndrome protein, MeCP2, to methylated and unmethylated DNA and chromatin.DNA binding restricts the intrinsic conformational flexibility of methyl CpG binding protein 2 (MeCP2).Structural, Dynamical, and Energetical Consequences of Rett Syndrome Mutation R133C in MeCP2.The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implicationsCharacterization and directed evolution of a methyl-binding domain protein for high-sensitivity DNA methylation analysisThe molecular basis of variable phenotypic severity among common missense mutations causing Rett syndromeFrom Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.The intervening domain from MeCP2 enhances the DNA affinity of the methyl binding domain and provides an independent DNA interaction site.Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation.Elevating expression of MeCP2 T158M rescues DNA binding and Rett syndrome-like phenotypes.Coil-to-helix transitions in intrinsically disordered methyl CpG binding protein 2 and its isolated domains.Sequence-specific DNA binding by AT-hook motifs in MeCP2.Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome.MECP2 mutants R106W; D121G; R133H; S134F; T158M and T158A do not bind to 5mC-DNALoss of MECP2 binding ability to 5mC-DNA
P2860
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P2860
Rett syndrome-causing mutations in human MeCP2 result in diverse structural changes that impact folding and DNA interactions.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Rett syndrome-causing mutation ...... folding and DNA interactions.
@en
type
label
Rett syndrome-causing mutation ...... folding and DNA interactions.
@en
prefLabel
Rett syndrome-causing mutation ...... folding and DNA interactions.
@en
P2093
P2860
P356
P1476
Rett syndrome-causing mutation ...... t folding and DNA interactions
@en
P2093
Christopher L Woodcock
Lila M Gierasch
Rachel A Horowitz-Scherer
Tatiana Nikitina
P2860
P304
20523-20534
P356
10.1074/JBC.M803021200
P407
P577
2008-05-22T00:00:00Z