Article
Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14.
Molecular brain - 24 Jul 2017
Shimobayashi Etsuko, Kapfhammer Josef P
Abstract excerpt
Spinocerebellar ataxia (SCA) is an autosomal dominant neurodegenerative disorder characterized by slowly progressive cerebellar dysfunction. Currently, 42 SCA types are known, some of which are caused by CAG repeat expansions, but others are caused by point mutations or deletions. Spinocerebellar ataxia type 14 (SCA14) is caused by missense mutations or deletions in the PRKCG gene, coding for protein kinase C...
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