Article
Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: a toxic RNA gain-of-function model.
Journal of neuroscience research - 1 Mar 2012
White Misti, Xia Guangbin, Gao Rui, Wakamiya Maki, Sarkar Partha S, McFarland Karen, Ashizawa Tetsuo
Abstract excerpt
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder manifested by ataxia and seizure. SCA10 is caused by a large expansion of an intronic ATTCT pentanucleotide repeat in the ATXN10 gene. We have recently postulated a toxic RNA-mediated gain of function in the pathogenesis of spinal cerebellar ataxia type 10 (SCA10). The spliced intron-9 RNA containing the expanded AUUCU...
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