RNA Toxicity and Perturbation of rRNA Processing in Spinocerebellar Ataxia Type 2.
Pan P LiRoumita MoulickHongxuan FengXin SunNicolas ArbezJing JinLeonard O MarqueErin HedglenHo-Yin Edwin ChanChristopher A RossStefan M PulstRussell L MargolisSarah WoodsonDobrila D RudnickiPublished in: Movement disorders : official journal of the Movement Disorder Society (2021)
These findings provide the first evidence of a contributory role of expATXN2 transcripts in SCA2 pathogenesis, and further support the role of expHTT transcripts in HD pathogenesis. The disruption of rRNA processing, mediated by aberrant interaction of RBPs with expATXN2 and expHTT transcripts, suggest a point of convergence in the pathogeneses of repeat expansion diseases with potential therapeutic implications. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.