Article
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.
The Journal of biological chemistry - 11 Jul 2008
Adachi Naoko, Kobayashi Takeshi, Takahashi Hideyuki, Kawasaki Takumi, Shirai Yasuhito, Ueyama Takehiko, Matsuda Toshio, Seki Takahiro, Sakai Norio, Saito Naoaki
Abstract excerpt
Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disease caused by mutations in protein kinase Cgamma (PKCgamma). Interestingly, 18 of 22 mutations are concentrated in the C1 domain, which binds diacylglycerol and is necessary for translocation and regulation of PKCgamma kinase activity. To determine the effect of these mutations on PKCgamma function and the pathology of SCA14, we...
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