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Updated: Jul 12, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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Published on: August 20, 2019

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FAM91A1-TBC1D23复杂结构揭示了易受PCH影响的人类遗传变异

Lin Zhao1, Huaqing Deng1, Qing Yang1

  • 1Key Laboratory of Birth Defects and Related Diseases of Women and Children, Department of Paediatrics, West China Second University Hospital, State Key Laboratory of Biotherapy and Collaborative Innovation Center of Biotherapy, Sichuan University, Chengdu 610041, China.

Proceedings of the National Academy of Sciences of the United States of America
|October 30, 2023
PubMed
概括

这项研究揭示了FAM91A1和TBC1D23相互作用以调节轴突生长,提供了对点脑小细胞缺血症 (PCH) 的分子见解. 这一发现有助于预测来自TBC1D23突变的PCH风险.

关键词:
戈尔吉戈尔吉是一座古老的城市.这是内体贩运.膜贩运 贩卖 贩卖 贩卖 贩卖 贩卖神经元发育的神经元发育点大脑小贝细胞低成形症

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