Article
The RhoB p.S73F mutation leads to cerebral palsy through dysregulation of lipid homeostasis.
EMBO molecular medicine - 1 Sept 2024
Wu Xinyu, Liu Ruonan, Zhang Zhongtian, Yang Jie, Liu Xin, Jiang Liqiang, Fang Mengmeng, Wang Shoutang, Lai Liangxue, Song Yuning, Li Zhanjun
Abstract excerpt
Cerebral palsy (CP) is a prevalent neurological disorder that imposes a significant burden on children, families, and society worldwide. Recently, the RhoB p.S73F mutation was identified as a de novo mutation associated with CP. However, the mechanism by which the RhoB p.S73F mutation causes CP is currently unclear. In this study, rabbit models were generated to mimic the human RhoB p.S73F mutation using the...
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