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Article

Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts.

European journal of human genetics : EJHG - 1 Dec 2014

Scholefield Janine, Watson Lauren, Smith Danielle, Greenberg Jacquie, Wood Matthew J A

Abstract excerpt

Polyglutamine (polyQ) disorders are inherited neurodegenerative conditions defined by a common pathogenic CAG repeat expansion leading to a toxic gain-of-function of the mutant protein. Consequences of this toxicity include activation of heat-shock proteins (HSPs), impairment of the ubiquitin-proteasome pathway and transcriptional dysregulation. Several studies in animal models have shown that reducing levels of...

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Source

Open in PubMed Open full text

Identifiers

PMID: 24667781
DOI: 10.1038/ejhg.2014.39
PMCID: PMC4231408

Genes

DNAJA1
UCHL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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