Article
Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14.
Neurobiology of disease - 1 Oct 2014
Ji Jingmin, Hassler Melanie L, Shimobayashi Etsuko, Paka Nagendher, Streit Raphael, Kapfhammer Josef P
Abstract excerpt
Spinocerebellar ataxias (SCAs) are hereditary diseases leading to Purkinje cell degeneration and cerebellar dysfunction. Most forms of SCA are caused by expansion of CAG repeats similar to other polyglutamine disorders such as Huntington's disease. In contrast, in the autosomal dominant SCA-14 the disease is caused by mutations in the protein kinase C gamma (PKCγ) gene which is a well characterized signaling...
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