Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach.
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Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sitesChaperonopathies: Spotlight on Hereditary Motor NeuropathiesPhosphorylation-dependent subcellular localization of the small heat shock proteins HspB1/Hsp25 and HspB5/αB-crystallin in cultured hippocampal neuronsAxonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsThe specificity of the interaction between αB-crystallin and desmin filaments and its impact on filament aggregation and cell viability.Structural aspects and chaperone activity of human HspB3: role of the "C-terminal extension".The Genetics of Spinal Muscular Atrophy: Progress and Challenges.Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy.Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophyMutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.Dysregulation of axonal transport and motorneuron diseases.Large potentials of small heat shock proteins.Animal models and therapeutic prospects for Charcot-Marie-Tooth disease.Barcoding heat shock proteins to human diseases: looking beyond the heat shock responseMolecular chaperones and neuronal proteostasis.A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.An interaction study in mammalian cells demonstrates weak binding of HSPB2 to BAG3, which is regulated by HSPB3 and abrogated by HSPB8.The growing world of small heat shock proteins: from structure to functions.Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.Heat shock response associated with hepatocarcinogenesis in a murine model of hereditary tyrosinemia type I.Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function.Developmental expression pattern of Hspb8 mRNA in the mouse brain: analysis through online databases.Reaction of small heat-shock proteins to different kinds of cellular stress in cultured rat hippocampal neurons.Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.Terminal Regions Confer Plasticity to the Tetrameric Assembly of Human HspB2 and HspB3
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P2860
Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach.
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2010 nî lūn-bûn
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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年学术文章
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2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
name
Mutant small heat shock protei ...... of a candidate gene approach.
@ast
Mutant small heat shock protei ...... of a candidate gene approach.
@en
Mutant small heat shock protei ...... of a candidate gene approach.
@nl
type
label
Mutant small heat shock protei ...... of a candidate gene approach.
@ast
Mutant small heat shock protei ...... of a candidate gene approach.
@en
Mutant small heat shock protei ...... of a candidate gene approach.
@nl
prefLabel
Mutant small heat shock protei ...... of a candidate gene approach.
@ast
Mutant small heat shock protei ...... of a candidate gene approach.
@en
Mutant small heat shock protei ...... of a candidate gene approach.
@nl
P2093
P1433
P1476
Mutant small heat shock protei ...... of a candidate gene approach.
@en
P2093
A Bartlett
E A Renard
J T Kissel
M L Freimer
P J Snyder
P304
P356
10.1212/WNL.0B013E3181CEF84A
P407
P577
2010-02-01T00:00:00Z