Article
A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling.
Molecular psychiatry - 1 Mar 2020
Zhang Shuting, Cai Fang, Wu Yili, Bozorgmehr Tahereh, Wang Zhe, Zhang Si, Huang Daochao, Guo Jifeng, Shen Lu, Rankin Catharine, Tang Beisha, Song Weihong
Abstract excerpt
Presenilin-1 (PSEN1) is the catalytic subunit of the γ-secretase complex, and pathogenic mutations in the PSEN1 gene account for the majority cases of familial AD (FAD). FAD-associated mutant PSEN1 proteins have been shown to affect APP processing and Aβ generation and inhibit Notch1 cleavage and Notch signaling. In this report, we found that a PSEN1 mutation (S169del) altered APP processing and Aβ generation,...
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