Article
Loss of Uch-L1 and Uch-L3 leads to neurodegeneration, posterior paralysis and dysphagia.
Human molecular genetics - 1 Sept 2001
Kurihara L J, Kikuchi T, Wada K, Tilghman S M
Abstract excerpt
Altered function of the ubiquitin pathway has been implicated in the etiology of neurodegeneration. For example, gracile axonal dystrophy (gad) mutant mice, which harbor a deletion within the gene encoding ubiquitin C-terminal hydrolase L1 (Uch-L1), display sensory ataxia followed by posterior paralysis and lethality. We previously showed that mice homozygous for a targeted deletion of the related Uch-L3 gene are...
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