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Genetic Background Alters the Severity and Onset of Neuromuscular Disease Caused by the Loss of Ubiq...

Genetic Background Alters the Severity and Onset of Neuromuscular Disease Caused by the Loss of Ubiq...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1492627148

Genetic Background Alters the Severity and Onset of Neuromuscular Disease Caused by the Loss of Ubiquitin-Specific Protease 14 (Usp14): e84042

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Full title

Genetic Background Alters the Severity and Onset of Neuromuscular Disease Caused by the Loss of Ubiquitin-Specific Protease 14 (Usp14): e84042

Journal title

PloS one, 2013-12, Vol.8 (12)

Language

English

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Scope and Contents

Contents

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 (axJ) mice results in reduced ubiquitin...

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Full title

Genetic Background Alters the Severity and Onset of Neuromuscular Disease Caused by the Loss of Ubiquitin-Specific Protease 14 (Usp14): e84042

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Record Identifier

TN_cdi_proquest_miscellaneous_1492627148

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1492627148

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E-ISSN

1932-6203

DOI

10.1371/journal.pone.0084042

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