Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
about
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyGenome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathyA genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathyThe nucleotide exchange factors of Hsp70 molecular chaperonesKeep your heart in shape: molecular chaperone networks for treating heart diseaseA Role for the Chaperone Complex BAG3-HSPB8 in Actin Dynamics, Spindle Orientation and Proper Chromosome Segregation during MitosisDisrupted autophagy undermines skeletal muscle adaptation and integrityBAG3: a new player in the heart failure paradigmIdentification of the key structural motifs involved in HspB8/HspB6-Bag3 interactionBAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stressMyofibrillar myopathiesCardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 SignalingA BAG3 Coding Variant in Mice Determines Susceptibility to Ischemic Limb Muscle Myopathy by Directing Autophagy.Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRecessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.In vivo modeling of the morbid human genome using Danio rerioAxial myopathy: an overlooked feature of muscle diseases.Myofibrillar myopathies: new developments.Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac DeathBAG3 directly interacts with mutated alphaB-crystallin to suppress its aggregation and toxicity.The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationGetting folded: chaperone proteins in muscle development, maintenance and disease.The balanced regulation of Hsc70 by DNJ-13 and UNC-23 is required for muscle functionality.Down-modulation of Bis reduces the invasive ability of glioma cells induced by TPA, through NF-κB mediated activation of MMP-9Evidence-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 oGranulostasis: Protein Quality Control of RNP Granules.The stress protein BAG3 stabilizes Mcl-1 protein and promotes survival of cancer cells and resistance to antagonist ABT-737Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathyTwo desmin gene mutations associated with myofibrillar myopathies in Polish familiesInfantile muscular dystrophy in Canadian aboriginals is an αB-crystallinopathyDecreased levels of BAG3 in a family with a rare variant and in idiopathic dilated cardiomyopathyUnusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.The sarcomeric Z-disc and Z-discopathies.Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.Common Variants for Heart Failure.Induction and adaptation of chaperone-assisted selective autophagy CASA in response to resistance exercise in human skeletal muscle.Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
P2860
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P2860
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
@ast
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
@en
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
@nl
type
label
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
@ast
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
@en
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
@nl
prefLabel
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
@ast
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
@en
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
@nl
P2093
P2860
P356
P1433
P1476
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
@en
P2093
Andrew G Engel
Anna V Bite
Barbara K Burton
Caroline Sewry
Duygu Selcen
Elena Pegoraro
Francesco Muntoni
P2860
P356
10.1002/ANA.21553
P577
2009-01-01T00:00:00Z