Small Heat-Shock Protein HSPB1 Mutants Stabilize Microtubules in Charcot-Marie-Tooth Neuropathy
نویسندگان
چکیده
منابع مشابه
Small heat-shock protein HSPB1 mutants stabilize microtubules in Charcot-Marie-Tooth neuropathy.
Mutations in the small heat shock protein HSPB1 (HSP27) are causative for Charcot-Marie-Tooth (CMT) neuropathy. We previously showed that a subset of these mutations displays higher chaperone activity and enhanced affinity to client proteins. We hypothesized that this excessive binding property might cause the HSPB1 mutant proteins to disturb the function of proteins essential for the maintenan...
متن کاملIncreased Monomerization of Mutant HSPB1 Leads to Protein Hyperactivity in Charcot-Marie-Tooth Neuropathy*
Small heat shock proteins are molecular chaperones capable of maintaining denatured proteins in a folding-competent state. We have previously shown that missense mutations in the small heat shock protein HSPB1 (HSP27) cause distal hereditary motor neuropathy and axonal Charcot-Marie-Tooth disease. Here we investigated the biochemical consequences of HSPB1 mutations that are known to cause perip...
متن کاملSmall fiber neuropathy in Charcot-Marie-Tooth disease.
UNLABELLED The aim of this study was to investigate small myelinated (Adelta) and unmyelinated (C) fiber function in patients with CMT1A and CMTX polyneuropathy. 17 CMT1A and 10 Cx32 polyneuropathy patients were investigated with warm and cold threshold to evaluate small myelinated (Adelta) an unmyelinated (C) somatic fiber function and with sympathetic skin responses (SSR) to evaluate postgang...
متن کاملMutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
BACKGROUND Charcot-Marie-Tooth (CMT) disease, the most common hereditary peripheral neuropathy, is highly clinically and genetically heterogeneous, and mutations in at least 18 genes have been identified. Recently, mutations in small heat shock protein 27 (Hsp27) were reported to cause CMT disease type 2F and distal hereditary motor neuropathy. OBJECTIVE To investigate the frequency and pheno...
متن کاملGlycoprotein Causes Charcot-Marie-Tooth–like Neuropathy in Transgenic Mice
In peripheral nerve myelin, the intraperiod line results from compaction of the extracellular space due to homophilic adhesion between extracellular domains (ECD) of the protein zero (P 0 ) glycoprotein. Point mutations in this region of P 0 cause human hereditary demyelinating neuropathies such as CharcotMarie-Tooth. We describe transgenic mice expressing a full-length P 0 modified in the ECD ...
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ژورنال
عنوان ژورنال: Journal of Neuroscience
سال: 2011
ISSN: 0270-6474,1529-2401
DOI: 10.1523/jneurosci.3266-11.2011