The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy
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Specific interaction of the actin-binding domain of dystrophin with intermediate filaments containing keratin 19.Dystrophins and dystrobrevins.RNA-Binding Proteins in Trichomonas vaginalis: Atypical Multifunctional ProteinsDystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophiesClinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD geneRAB-10 Promotes EHBP-1 Bridging of Filamentous Actin and Tubular Recycling Endosomes.Crystal Structure of the Actin-Binding Domain of α-Actinin-4 Lys255Glu Mutant Implicated in Focal Segmental GlomerulosclerosisSkeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disordersOpening of tandem calponin homology domains regulates their affinity for F-actin.Actin-binding domain of mouse plectin. Crystal structure and binding to vimentinBinding of dystrophin's tandem calponin homology domain to F-actin is modulated by actin's structureThe carboxyterminal EF domain of erythroid alpha-spectrin is necessary for optimal spectrin-actin bindingThe utrophin actin-binding domain binds F-actin in two different modes: implications for the spectrin superfamily of proteins.F-actin clustering and cell dysmotility induced by the pathological W148R missense mutation of filamin B at the actin-binding domainMissense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function.DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsDisease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation.Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates.Functional plasticity of CH domains.Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.Physiology, structure, and susceptibility to injury of skeletal muscle in mice lacking keratin 19-based and desmin-based intermediate filaments.Large-scale opening of utrophin's tandem calponin homology (CH) domains upon actin binding by an induced-fit mechanismDystrophin hydrophobic regions in the pathogenesis of Duchenne and Becker muscular dystrophies.The actin binding domain of ACF7 binds directly to the tetratricopeptide repeat domains of rapsyn.3DSwap: curated knowledgebase of proteins involved in 3D domain swappingThe muscular dystrophies: from genes to therapies.Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.An atomic model of actin filaments cross-linked by fimbrin and its implications for bundle assembly and function.Characterization of a Dmd (EGFP) reporter mouse as a tool to investigate dystrophin expression.Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online databaseDMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.NAB-1 instructs synapse assembly by linking adhesion molecules and F-actin to active zone proteinsRegulation of actin cytoskeleton dynamics in cells.A CH domain-containing N terminus in NuMA?Molecular evolution and structure of alpha-actinin.Pathoproteomic profiling of the skeletal muscle matrisome in dystrophinopathy associated myofibrosis.Dual AAV gene therapy for Duchenne muscular dystrophy with a 7-kb mini-dystrophin gene in the canine model.Mass spectrometry-based protein analysis to unravel the tissue pathophysiology in Duchenne muscular dystrophy.Dystrophin and Spectrin, Two Highly Dissimilar Sisters of the Same Family.Normal and altered pre-mRNA processing in the DMD gene.
P2860
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P2860
The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy
description
2000 nî lūn-bûn
@nan
2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
The structure of the N-termina ...... e or Becker muscular dystrophy
@ast
The structure of the N-termina ...... e or Becker muscular dystrophy
@en
The structure of the N-termina ...... e or Becker muscular dystrophy
@nl
type
label
The structure of the N-termina ...... e or Becker muscular dystrophy
@ast
The structure of the N-termina ...... e or Becker muscular dystrophy
@en
The structure of the N-termina ...... e or Becker muscular dystrophy
@nl
prefLabel
The structure of the N-termina ...... e or Becker muscular dystrophy
@ast
The structure of the N-termina ...... e or Becker muscular dystrophy
@en
The structure of the N-termina ...... e or Becker muscular dystrophy
@nl
P3181
P1433
P1476
The structure of the N-termina ...... e or Becker muscular dystrophy
@en
P2093
F L Norwood
J Kendrick-Jones
P304
P3181
P356
10.1016/S0969-2126(00)00132-5
P577
2000-05-01T00:00:00Z