Article
Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel--loss-of-function cellular model of SCA6.
Neurobiology of disease - 1 Nov 2004
Matsuyama Zenjiro, Yanagisawa Naomi Kimoto, Aoki Yoko, Black John L, Lennon Vanda A, Mori Yasuo, Imoto Keiji, Inuzuka Takashi
Abstract excerpt
Spinocerebellar ataxia (SCA) 6 is caused by small expansion of a polyglutamine sequence, encoded by CAG trinucleotide repeats, at the C-terminal end of the human CaV2.1 (P/Q-type) Ca2+ channel alpha12.1 subunit and it manifests itself as slowly progressive cerebellar ataxia. To elucidate the pathogenic mechanisms underlying SCA6, we introduced CAG repeats of various lengths into the Ca2+ channel alpha12.1 subunit...
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