CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
Dandan TanCuijie WeiZhao ChenYu HuangJianwen DengJingjing LiYidan LiuXinhua BaoJin XuZhengmao HuSuxia WangYanbin FanYizheng JiangYe WuYuan WuShuang WangPanyan LiuYuehua ZhangZhixian YangYuwu JiangHong ZhangDao-Jun HongNanbert ZhongJiang HongHui XiongPublished in: Movement disorders : official journal of the Movement Disorder Society (2023)
This study identified a novel SCA subtype caused by intragenic CAG repeat expansion in THAP11 with intracellular aggregation of THAP11 polyQ protein. Our findings extended the spectrum of polyQ diseases and offered a new perspective in understanding polyQ-mediated toxic aggregation. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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