Article
Synaptic defects in ataxia mice result from a mutation in Usp14, encoding a ubiquitin-specific protease.
Nature genetics - 1 Nov 2002
Wilson Scott M, Bhattacharyya Bula, Rachel Rivka A, Coppola Vincenzo, Tessarollo Lino, Householder Deborah B, Fletcher Colin F, Miller Richard J, Copeland Neal G, Jenkins Nancy A
Abstract excerpt
Mice that are homozygous with respect to a mutation (ax(J)) in the ataxia (ax) gene develop severe tremors by 2-3 weeks of age followed by hindlimb paralysis and death by 6-10 weeks of age. Here we show that ax encodes ubiquitin-specific protease 14 (Usp14). Ubiquitin proteases are a large family of cysteine proteases that specifically cleave ubiquitin conjugates. Although Usp14 can cleave a ubiquitin-tagged...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.