Article
The identification of PSEN1 p.Tyr159Ser mutation in a non-canonic early-onset Alzheimer's disease family.
Molecular and cellular neurosciences - 1 May 2022
Li Haitao, Li Yu, Liang Wenping, Wei Zheng Z, Li Xuanyu, Tian Yuanruhua, Qiao Shanshan, Yang Yishu, Yang Liu, Wu Dongyue, Yin Wei, Liu Honglin, Zhang Wei, Zhang Yongbo, Wang Zhe
Abstract excerpt
More than 300 missense mutations in PSEN1 gene have been correlated to the early-onset Alzheimer's disease (EOAD), but given the high diversity of PS1 (the PSEN1 gene product) substrates and the involvement of PS1 in multiple biological functions, different mutants may represent different EOAD etiologies, and how each mutant contributes to the EOAD remains to be further investigated. Here we report the...
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