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Article

Characterization of human small heat shock protein HSPB1 α-crystallin domain localized mutants associated with hereditary motor neuron diseases.

Scientific reports - 12 Jan 2018

Weeks Stephen D, Muranova Lydia K, Heirbaut Michelle, Beelen Steven, Strelkov Sergei V, Gusev Nikolai B

Abstract excerpt

Congenital mutations in human small heat shock protein HSPB1 (HSP27) have been linked to Charcot-Marie-Tooth disease, a commonly occurring peripheral neuropathy. Understanding the molecular mechanism of such mutations is indispensable towards developing future therapies for this currently incurable disorder. Here we describe the physico-chemical properties of the autosomal dominant HSPB1 mutants R127W, S135F and...

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Topics

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Share to Charcot-Marie-Tooth Disease
Share to Chromatography, Gel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heat-Shock Proteins

Share to HSP27 Heat-Shock Proteins

Share to Protein Stability

Share to Protein Structure, Quaternary

Share to Scattering, Small Angle

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Source

Open in PubMed Open full text

Identifiers

PMID: 29330367
DOI: 10.1038/s41598-017-18874-x
PMCID: PMC5766566

Genes

HSPB1
HSPB6

Variants

Provenance

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