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Article

Genetic background alters the severity and onset of neuromuscular disease caused by the loss of ubiquitin-specific protease 14 (usp14).

PloS one - 1 Jan 2013

Marshall Andrea G, Watson Jennifer A, Hallengren Jada J, Walters Brandon J, Dobrunz Lynn E, Francillon Ludwig, Wilson Julie A, Phillips Scott E, Wilson Scott M

Abstract excerpt

In this study, we identified and characterized an N-ethyl-N-nitrosourea (ENU) induced mutation in Usp14 (nmf375) that leads to adult-onset neurological disease. The nmf375 mutation causes aberrant splicing of Usp14 mRNA, resulting in a 95% reduction in USP14. We previously showed that loss of USP14 in ataxia (ax (J)) mice results in reduced ubiquitin levels, motor endplate disease, Purkinje cell axonal dystrophy...

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Identifiers

PMID: 24358326
DOI: 10.1371/journal.pone.0084042
PMCID: PMC3865287

Genes

USP14

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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