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

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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Bibliographic Details
Main Authors: Andrea G Marshall, Jennifer A Watson, Jada J Hallengren, Brandon J Walters, Lynn E Dobrunz, Ludwig Francillon, Julie A Wilson, Scott E Phillips, Scott M Wilson
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3865287?pdf=render

Internet

http://europepmc.org/articles/PMC3865287?pdf=render

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