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Mutant HSPB8 causes motor neuron-specific neurite degeneration.

Human molecular genetics - 15 Aug 2010

Irobi Joy, Almeida-Souza Leonardo, Asselbergh Bob, De Winter Vicky, Goethals Sofie, Dierick Ines, Krishnan Jyothsna, Timmermans Jean-Pierre, Robberecht Wim, De Jonghe Peter, Van Den Bosch Ludo, Janssens Sophie, Timmerman Vincent

Abstract excerpt

Missense mutations (K141N and K141E) in the alpha-crystallin domain of the small heat shock protein HSPB8 (HSP22) cause distal hereditary motor neuropathy (distal HMN) or Charcot-Marie-Tooth neuropathy type 2L (CMT2L). The mechanism through which mutant HSPB8 leads to a specific motor neuron disease phenotype is currently unknown. To address this question, we compared the effect of mutant HSPB8 in primary...

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Identifiers

PMID: 20538880
DOI: 10.1093/hmg/ddq234
PMCID: PMC2908473

Genes

HSPB8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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