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[Recent Topics in Autosomal Dominantly Inherited Spinocerebellar Ataxias].

Brain and nerve = Shinkei kenkyu no shinpo - 1 Aug 2017

Ikeda Yoshio

Abstract excerpt

Among various dominantly inherited spinocerebellar ataxias (SCAs), it is revealed that the molecular mechanism of so called "non-coding microsatellite repeat expansion disorders" was involved in RNA gain-of-function as well as "RAN translation". Recently, the "polyglutamine disorders" caused by the coding CAG repeat expansions were also clarified that they were involved in RNA mechanism or RAN translation. The...

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PMID: 28819073
DOI: 10.11477/mf.1416200840

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RAN

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