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Updated: Jul 17, 2025

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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由于MBNL抑制和RNA错误拼接导致的1型肌性衰变的自闭症特征

Lukasz Sznajder1, Mahreen Khan2, Mariam Tadross3

  • 1University of Nevada, Las Vegas.

Research square
|August 30, 2023
PubMed
概括

与肌性缩相关的DMPK基因的并列重复扩张可以导致自闭症谱系障碍. 这通过肌肉盲样 (MBNL) 蛋白抑制发生,导致自闭症风险基因的发育错误拼接.

关键词:
在 ANK2 里面,你会看到 ANK2.在ASD中,使用的是ASD.在 DMPKK 里面.这就是为什么 MBNL MBNL在SRRM4中,替代性拼接是一种替代性的拼接.自闭症谱系障碍 自闭症谱系障碍微型的外表是微型的外表.肌性发育不良症 肌性发育不良症短串联重复扩张扩张

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