SCA THAP11

CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.

Dandan,Tan, Cuijie,Wei, Zhao,Chen, Yu,Huang, Jianwen,Deng, Jingjing,Li, Yidan,Liu, Xinhua,Bao, Jin,Xu, Zhengmao,Hu, Suxia,Wang, Yanbin,Fan, Yizheng,Jiang, Ye,Wu, Yuan,Wu, Shuang,Wang, Panyan,Liu, Yuehua,Zhang, Zhixian,Yang, Yuwu,Jiang, Hong,Zhang, Daojun,Hong, Nanbert,Zhong, Hong,Jiang, Hui,Xiong

Expansion of the polyQ repeats in THAP11 forms intranuclear aggregation and causes cell G0/G1 arrest.

Rong-Hua,Yin, Yang,Li, Fan,Yang, Yi-Qun,Zhan, Miao,Yu, Chang-Hui,Ge, Wang-Xiang,Xu, Liu-Jun,Tang, Xiao-Hui,Wang, Biao,Chen, Yang,Yang, Jian-Jie,Li, Chang-Yan,Li, Xiao-Ming,Yang

A Population-Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank.

Chris,Clarkson, Zhongbo,Chen, Clarissa,Rocca, Bharati,Jadhav, Kristina,Ibañez, Mina,Ryten, Andrew J,Sharp, Henry,Houlden, Arianna,Tucci

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Rapamycin alleviates neurodegeneration in a Drosophila model of spinocerebellar ataxia type 51.

Cuijie,Wei, Taoyun,Ji, Jin,Xu, Yilei,Zheng, Fuze,Zheng, Suxia,Wang, Chao,Gao, Yalan,Wan, Zhenyu,Li, Jianwen,Deng, Hui,Xiong

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Wai Yan,Yau, Roisin,Sullivan, Emer,O'Connor, David,Pellerin, Michael H,Parkinson, Paola,Giunti, Marie-Josée,Dicaire, Matt C,Danzi, Stephan,Züchner, Bernard,Brais, Nicholas W,Wood, Henry,Houlden, Jana,Vandrovcova

SMARCA2 and THAP11: potential candidates for polyglutamine disorders as evidenced from polymorphism and protein-folding simulation studies.

Neeraj,Pandey, Uma,Mittal, Achal K,Srivastava, Mitali,Mukerji