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Updated: Jul 23, 2025

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与KPTN相关的疾病模型涉及mTOR信号在认知和过度生长的表型中

Maria O Levitin1,2, Lettie E Rawlins3,4, Gabriela Sanchez-Andrade1

  • 1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

Brain : a journal of neurology
|July 12, 2023
PubMed
概括

由KPTN变体引起的KPTN相关疾病导致大脑过度生长和认知缺陷. 鼠标和人类模型显示了mTORC1通路的失调,这表明拉帕米辛是治疗这种KICSTOR复杂性疾病的潜在疗法.

关键词:
动物模型动物模型这就是 iPSC 的意义.在mTOROR中使用.宏观头脑症是什么意思神经发育障碍 神经发育障碍这是一种衰退式的衰退式.

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