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Article

Mutations in HspB1 and hereditary neuropathies.

Cell stress & chaperones - 1 Jul 2020

Muranova Lydia K, Sudnitsyna Maria V, Strelkov Sergei V, Gusev Nikolai B

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is major hereditary neuropathy. CMT has been linked to mutations in a range of proteins, including the small heat shock protein HspB1. Here we review the properties of several HspB1 mutants associated with CMT. In vitro, mutations in the N-terminal domain lead to a formation of larger HspB1 oligomers when compared with the wild-type (WT) protein. These mutants are resistant to...

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Identifiers

PMID: 32301006
DOI: 10.1007/s12192-020-01099-9
PMCID: PMC7332652

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