Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.

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Title: Long-read sequencing identifies ATXN3 repeat expansions, and transcriptomics reveals disease progression biomarkers and druggable targets for spinocerebellar ataxia type 3.
Authors: Liu, Chang1 (AUTHOR), Wang, Xin2,3 (AUTHOR), Xu, Chao2,4 (AUTHOR), Liu, Xiaoxiang5 (AUTHOR), Ke, Liyan2,6 (AUTHOR), Li, Ying2,7 (AUTHOR), Zhang, Hang2,6 (AUTHOR), Tan, Jianqiang8 (AUTHOR), Tan, Senwei2,3 (AUTHOR), Zhang, Zitong2,6 (AUTHOR), Cheng, Liang2,3 (AUTHOR) liangcheng@hrbmu.edu.cn, Ren, Yaqiong9,10 (AUTHOR) ryq327@163.com, Shi, Lei2,6 (AUTHOR) shilei_0328@hrbmu.edu.cn
Source: BMC Neurology. 9/1/2025, Vol. 25 Issue 1, p1-18. 18p.
Database: Academic Search Ultimate
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ISSN:14712377
DOI:10.1186/s12883-025-04378-z