Article
R659S mutation of gammaPKC is susceptible to cell death: implication of this mutation/polymorphism in the pathogenesis of retinitis pigmentosa.
Neurochemistry international - 1 Dec 2006
Mochizuki Hideki, Seki Takahiro, Adachi Naoko, Saito Naoaki, Mishima Hiromu K, Sakai Norio
Abstract excerpt
It has been reported that mutations of gammaPKC cause hereditary spinocerebellar atrophy type 14 (SCA14). Our recent study has revealed that the SCA14 mutant gammaPKC is susceptible to aggregation and causes cell death. Among mutations/polymorphisms of gammaPKC, the R659S mutation was firstly segregated from families with hereditary retinitis pigmentosa type 11 (RP11). Although more reliable etiological mutations...
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