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Updated: Jan 14, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

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核糖体蛋白RPS6KC1中的双基变异会导致复杂的神经发育障碍

Laura Planas-Serra1, Mar Rodríguez-Ruiz1, Eric Nathaniel Anderson2

  • 1Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

American journal of human genetics
|October 23, 2025
PubMed
概括

核糖体蛋白S6激酶C1 (RPS6KC1) 中的突变通过破坏蛋白质合成,脂质信号传递和mTOR通路,导致神经发育障碍. 这项研究确定了RPS6KC1在细胞功能和疾病中的新角色.

关键词:
PI(3) P3) P3) P3) P3) P3) P3) P3) P3) P) P) P) P) P) P) P) P)在RPS6KC1中使用.RSK家族家族 RSK家族家族在mTOROR中使用mTOR.神经发育延迟是一种神经发育延迟.斯芬戈辛尼 (Sphingosine) 是一种神.

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