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在TSC2中大量的缺失会通过调节PI3K/AKT/mTOR信号通路而导致结核硬化综合体

Jiahui Fu1, Peili Liang2, Yingchun Zheng3

  • 1Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, China.

Gene
|February 27, 2024
PubMed
概括

在TSC2基因的大量删除导致结核性硬化综合体 (TSC),通过破坏PI3K/AKT/mTOR通路影响细胞生长和运动. 这项研究阐明了这种TSC2突变的遗传和细胞机制.

关键词:
心脏类拉布多米奥马低黑色素质的斑点是什么?大量的删除删除在 PAM 信号通道中,这就是TSC2的特点.结核性硬化综合体 结核性硬化综合体

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