TCF4 intronic CAG repeat length modulates the effect of ATXN3 on age at onset in spinocerebellar ataxia type 3
TCF4 intronic CAG repeat length-dependently modifies SCA3 age at onset through bidirectional molecular synergy with expanded ataxin-3. These findings reveal a novel intronic genetic modifier and establish the pathogenic interaction between non-coding and coding repeat expansion loci as a disease-modifying mechanism in repeat expansion disorders.
Authors
- Chunrong Wang (ORCID: https://orcid.org/0000-0002-1724-3426)
- Lijing Lei
- Na Wan
- Yuting Shi
- Rong Qiu
- Beisha Tang
- Hong Jiang
- Zhe Long
- Linliu Peng
- Zhao Chen
- Qian Jiang
- Qi Wu
- Lang He
- Linlin Wan
Institutions
- Central South University (CN)
- Second Xiangya Hospital of Central South University (CN)
- Third Xiangya Hospital (CN)
- Xiangya Hospital Central South University (CN)
Publication Details
- Journal
- Journal of Advanced Research
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1016/j.jare.2026.02.031
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00