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[Recent Topics in Autosomal Dominantly Inherited Spinocerebellar Ataxias].
Brain and Nerve = Shinkei Kenkyū No Shinpo 2017 August
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 common molecular mechanism might exist between SCAs of which the repeat expansions were located in both coding and non-coding regions.
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