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Updated: Jun 14, 2025

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这种SORL1 p.Y1816C 变种导致内体二分化受损和自体主导阿尔茨海默病

Anne Mette G Jensen1, Jan Raska2,3, Petr Fojtik1,2,3

  • 1Department of Biomedicine, Aarhus University, Aarhus C DK8000, Denmark.

Proceedings of the National Academy of Sciences of the United States of America
|September 3, 2024
PubMed
概括

一种特定的SORL1基因变异 (p.Y1816C) 与阿尔茨海默病 (AD) 有关. 这种变异破坏了正常的蛋白质流通,并导致神经元中的内体扩大,证实了它在阿尔茨海默病发病过程中的作用.

关键词:
在 3Fn 域内.与SORL1相关的阿尔茨海默氏病.索拉拉 (SORLA) 是一个分化二元化是指二元化的逆转激素是一种逆转激素.

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