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Article

Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments.

Acta neuropathologica - 1 Jul 2013

Holmgren Anne, Bouhy Delphine, De Winter Vicky, Asselbergh Bob, Timmermans Jean-Pierre, Irobi Joy, Timmerman Vincent

Abstract excerpt

Mutations in the small heat shock protein HSPB1 (HSP27) are a cause of axonal Charcot-Marie-Tooth neuropathy (CMT2F) and distal hereditary motor neuropathy. To better understand the effect of mutations in HSPB1 on the neuronal cytoskeleton, we stably transduced neuronal cells with wild-type and mutant HSPB1 and investigated axonal transport of neurofilaments (NFs). We observed that mutant HSPB1 affected the...

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Source

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Identifiers

PMID: 23728742
DOI: 10.1007/s00401-013-1133-6
PMCID: PMC3963106

Genes

HSPB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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