线12

Manish Kumar1,2,3, Shweta Sahni1,4, Vivekanand A1,2,3

  • 1Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR -IGIB), Mall Road, Delhi 110007, India.

iScience
|May 7, 2024
PubMed
概括

使用患者衍生细胞研究了SCA12 (Spinocerebellar Ataxia type-12) 的分子病理学. 在PPP2R2BRNA中扩展的CAG重复形成核焦点,隔离蛋白,并驱动RAN翻译,揭示关键分子签名.