Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms
about
Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubesA mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystoniaAssociation of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended FamilyStructure of the F-actin-tropomyosin complexInclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradationActin-Interacting Protein 1 Contributes to Intranuclear Rod Assembly in Dictyostelium discoideum.Congenital myopathies: diseases of the actin cytoskeleton.Structural polymorphism in F-actin.Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle functionThe Effects of Disease Models of Nuclear Actin Polymerization on the Nucleus.The pathogenesis of ACTA1-related congenital fiber type disproportion.Phenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes.Domain structure of HrpE, the Hrp pilus subunit of Xanthomonas campestris pv. vesicatoria.Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).Proteomic analysis of age dependent nitration of rat cardiac proteins by solution isoelectric focusing coupled to nanoHPLC tandem mass spectrometry.Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.Functional effects of nemaline myopathy mutations on human skeletal alpha-actin.Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.Conformational dynamics of actin: effectors and implications for biological function.Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.Insights into the effects of disease-causing mutations in human actins.Myopathy-causing actin mutations promote defects in serum-response factor signalling.Grb10 deletion enhances muscle cell proliferation, differentiation and GLUT4 plasma membrane translocation.Class-specific interaction of profilin and ADF isovariants with actin in the regulation of plant development.Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.Sporadic late onset nemaline myopathy and immunoglobulin deposition disease.
P2860
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P2860
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms
description
2004 nî lūn-bûn
@nan
2004 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@ast
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@en
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@en-gb
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@nl
type
label
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@ast
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@en
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@en-gb
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@nl
prefLabel
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@ast
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@en
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@en-gb
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@nl
P2093
P50
P3181
P356
P1476
Evidence for a dominant-negati ...... ation of mutant actin isoforms
@en
P2093
Adam L Maxwell
Ana Domazetovska
Biljana Ilkovski
Kay E Davies
Kristen J Nowak
Sophie Clement
P304
P3181
P356
10.1093/HMG/DDH185
P407
P577
2004-06-15T00:00:00Z