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Updated: Sep 18, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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一只老鼠SATB1的切断会导致神经发育异常,重复SATB1突变患者的症状

Zhi-Bin Hu1, Wei-Tang Liu2,3, Yi-Wei Li4

  • 1State Key Laboratory of Brain Function and Disorders, MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai, 200032, China. 20111520014@fudan.edu.cn.

Acta pharmacologica Sinica
|June 26, 2025
PubMed
概括

特殊的AT丰富序列结合蛋白1 (SATB1) 突变导致神经发育障碍 (NDD). 一个大鼠模型显示,Satb1缺乏导致了NDD类症状,克洛纳泽帕姆部分逆转了这种症状,表明了治疗潜力.

关键词:
在SATB1综合征中,智力障碍 智力障碍是一种智力障碍.微头症是一个微头症.神经发育障碍 神经发育障碍

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