Missense mutations in desmin associated with familial cardiac and skeletal myopathy
about
Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desminCalsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteinsThe toxic effect of R350P mutant desmin in striated muscle of man and mouseA dysfunctional desmin mutation in a patient with severe generalized myopathyDual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutantsGenomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3Intermediate Filaments Play a Pivotal Role in Regulating Cell Architecture and FunctionDisrupted autophagy undermines skeletal muscle adaptation and integrityMyofibrillar myopathiesDisruption of striated preferentially expressed gene locus leads to dilated cardiomyopathy in miceN-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathyThe cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro.Myocardial fibrosis in desmin-related hypertrophic cardiomyopathy.Cochlear pericyte responses to acoustic trauma and the involvement of hypoxia-inducible factor-1alpha and vascular endothelial growth factor.The specificity of the interaction between αB-crystallin and desmin filaments and its impact on filament aggregation and cell viability.Myofibrillar myopathies: new developments.Stress-response proteins in cardiovascular disease.αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.The eye lens cytoskeleton.A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.Progress in desmin-related myopathies.Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stagesDesmin filaments influence myofilament spacing and lateral compliance of slow skeletal muscle fibers.Human alpha B-crystallin mutation causes oxido-reductive stress and protein aggregation cardiomyopathy in miceDesmin-related myopathies in mice and man.A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1.Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association oClinical and genetic aspects of distal myopathies.Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encounteredDifferential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathyA novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.Two desmin gene mutations associated with myofibrillar myopathies in Polish familiesMolecular mechanisms of inherited cardiomyopathies.Infantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathyMutation in BAG3 causes severe dominant childhood muscular dystrophy.Cardiac complications of childhood myopathies.Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Mechanotransduction in cardiac hypertrophy and failure.The desmin coil 1B mutation K190A impairs nebulin Z-disc assembly and destabilizes actin thin filaments.Desmin-related cardiomyopathy: an unfolding story
P2860
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P2860
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
description
1998 nî lūn-bûn
@nan
1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@ast
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@en
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@en-gb
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@nl
type
label
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@ast
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@en
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@en-gb
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@nl
prefLabel
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@ast
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@en
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@en-gb
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@nl
P2093
P3181
P356
P1433
P1476
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
@en
P2093
Cervenáková L
Dalakas MC
Goldfarb LG
Semino-Mora C
Sivakumar K
Vasconcelos O
P2888
P304
P3181
P356
10.1038/1300
P407
P577
1998-08-01T00:00:00Z
P5875
P6179
1045674591