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在患有缺血小血管疾病的患者中,A Novel APP p.V742L变异增强了FE65信号传递

Bas J B Voesenek1, Julie W Rutten2, Monique P C Mulder3

  • 1Department of Human Genetics, Leiden University Medical Center, 2333 ZC Leiden, the Netherlands.

Neurobiology of disease
|January 27, 2026
PubMed
概括

一种新的粉样蛋白前体蛋白基因 (APP) 变体,APP p.V742L,与缺血小血管疾病有关. 这种变异增强了APP细胞内域 (AICD) 与FE65的相互作用,改变了基因转录,并表明了新的APP相关脑疾病表型.

关键词:
在AICD中,AICD是AICD.这就是为什么APP APP APP.在 FE65 FE65 的情况下,它是 FE65 的.缺血性中风是因为缺血性中风.Lysosomes 是一个溶解体.

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