Article
Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity.
PloS one - 1 Jan 2012
Sikora Kristine M, Nosavanh LaGina M, Kantheti Prameela, Burmeister Margit, Hortsch Michael
Abstract excerpt
Caytaxin is a highly-conserved protein, which is encoded by the Atcay/ATCAY gene. Mutations in Atcay/ATCAY have been identified as causative of cerebellar disorders such as the rare hereditary disease Cayman ataxia in humans, generalized dystonia in the dystonic (dt) rat, and marked motor defects in three ataxic mouse lines. While several lines of evidence suggest that Caytaxin plays a critical role in...
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