Genetic Background Alters the Severity and Onset of Neuromuscular Disease Caused by the Loss of Ubiquitin-Specific Protease 14 (Usp14)

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...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3865287/
https://ncbi.nlm.nih.gov/pubmed/24358326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0084042
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