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Updated: Sep 20, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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致病突变破坏了DDX3X神经发育障碍患者的压力颗粒组装

Yan Bi1,2,3, Jingjing Sun4,5, Decheng Ren3

  • 1International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, 910 Hengshan Road, Xuhui District, Shanghai 200030, China.

Human molecular genetics
|May 26, 2025
PubMed
概括

DDX3X神经发育障碍 (DDX3X-NDD) 是由于DDX3X基因的突变引起的. 这项研究揭示了这些突变如何导致蛋白质损失或功能障碍,影响细胞存活和细胞循环,提供了对疾病病理学的见解.

关键词:
DDX3X是神经发育障碍的一种疾病.一个PABPC1的产品.细胞亡是细胞的亡.细胞循环中的细胞循环.应力颗粒 (SG) 是一种压力颗粒.

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