A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
about
Identification and characterization of cvHsp. A novel human small stress protein selectively expressed in cardiovascular and insulin-sensitive tissuesIdentification of Mrj, a DnaJ/Hsp40 family protein, as a keratin 8/18 filament regulatory proteinDesmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desminDetection of protein-protein interactions among lens crystallins in a mammalian two-hybrid system assayHuman synemin gene generates splice variants encoding two distinct intermediate filament proteinsA complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14Binding determinants of the small heat shock protein, αB-crystallin: recognition of the 'IxI' motifalphaB-crystallin competes with Alzheimer's disease beta-amyloid peptide for peptide-peptide interactions and induces oxidation of Abeta-Met35Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.Crystallin gene mutations in Indian families with inherited pediatric cataractMutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyAn experimental approach to study the function of mitochondria in cardiomyopathyHuman small heat shock proteins: protein interactomes of homo- and hetero-oligomeric complexes: an updateKeep your heart in shape: molecular chaperone networks for treating heart diseaseRole of heat shock proteins in stem cell behaviorThe ubiquitin-proteasome system and cardiovascular diseaseNeuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sitesRegulation of cell survival and death by pyridine nucleotidesSolid-state NMR and SAXS studies provide a structural basis for the activation of αB-crystallin oligomersCrystal Structure of R120G Disease Mutant of Human αB-Crystallin Domain Dimer Shows Closure of a GrooveN-terminal domain of B-crystallin provides a conformational switch for multimerization and structural heterogeneityMultiple molecular architectures of the eye lens chaperone B-crystallin elucidated by a triple hybrid approachChanges in the quaternary structure and function of MjHSP16.5 attributable to deletion of the IXI motif and introduction of the substitution, R107G, in the -crystallin domainCrystal Structure of an Activated Variant of Small Heat Shock Protein Hsp16.5Disrupted autophagy undermines skeletal muscle adaptation and integrityPriming the proteasome by protein kinase G: a novel cardioprotective mechanism of sildenafilHSP22, a new member of the small heat shock protein superfamily, interacts with mimic of phosphorylated HSP27 ((3D)HSP27)Effects of modifications of alpha-crystallin on its chaperone and other propertiesThe ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathyHot-spot residue in small heat-shock protein 22 causes distal motor neuropathyBAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stressMyofibrillar myopathiesProteotoxicity: an underappreciated pathology in cardiac diseaseαB-crystallin/sHSP protects cytochrome c and mitochondrial function against oxidative stress in lens and retinal cellsCardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 SignalingDisulfide cross-links in the interaction of a cataract-linked alphaA-crystallin mutant with betaB1-crystallinMyofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIbIn vivo substrates of the lens molecular chaperones αA-crystallin and αB-crystallinalphaB-Crystallin-coated MAP microtubule resists nocodazole and calcium-induced disassemblyMechanism of small heat shock protein function in vivo: a knock-in mouse model demonstrates that the R49C mutation in alpha A-crystallin enhances protein insolubility and cell death
P2860
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P2860
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին 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
A missense mutation in the alp ...... uses a desmin-related myopathy
@ast
A missense mutation in the alp ...... uses a desmin-related myopathy
@en
A missense mutation in the alp ...... uses a desmin-related myopathy
@en-gb
A missense mutation in the alp ...... uses a desmin-related myopathy
@nl
type
label
A missense mutation in the alp ...... uses a desmin-related myopathy
@ast
A missense mutation in the alp ...... uses a desmin-related myopathy
@en
A missense mutation in the alp ...... uses a desmin-related myopathy
@en-gb
A missense mutation in the alp ...... uses a desmin-related myopathy
@nl
prefLabel
A missense mutation in the alp ...... uses a desmin-related myopathy
@ast
A missense mutation in the alp ...... uses a desmin-related myopathy
@en
A missense mutation in the alp ...... uses a desmin-related myopathy
@en-gb
A missense mutation in the alp ...... uses a desmin-related myopathy
@nl
P2093
P921
P3181
P356
P1433
P1476
A missense mutation in the alp ...... uses a desmin-related myopathy
@en
P2093
Prévost MC
P2888
P3181
P356
10.1038/1765
P407
P577
1998-09-01T00:00:00Z
P5875
P6179
1053524612