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Article

Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response.

Human mutation - 1 Aug 2007

Dierick Ines, Irobi Joy, Janssens Sophie, Theuns Jessie, Lemmens Robin, Jacobs An, Corsmit Ellen, Hersmus Nicole, Van Den Bosch Ludo, Robberecht Wim, De Jonghe Peter, Van Broeckhoven Christine, Timmerman Vincent

Abstract excerpt

The 27 kDa heat shock protein 1 (HSP27) is a member of the ubiquitously expressed small heat shock protein family and has pleiotropic cytoprotective functions. Since HSP27 may act as a motor neuron survival factor, we analyzed the genetic contribution of the human HSPB1 gene (HSPB1) to the etiology of amyotrophic lateral sclerosis (ALS). In a cohort of sporadic ALS patients, we identified three rare genetic...

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Source

Identifiers

PMID: 17623484
DOI: 10.1002/humu.9503

Genes

HSPB1
HSF1

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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