Loss of presenilin function is associated with a selective gain of APP function

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Loss of presenilin function is associated with a selective gain of APP function

Presenilin 1 (PS1) is an essential γ-secretase component, the enzyme responsible for amyloid precursor protein (APP) intramembraneous cleavage. Mutations in PS1 lead to dominant-inheritance of early-onset familial Alzheimer's disease (FAD). Although expression of FAD-linked PS1 mutations enhances toxic Aβ production, the importance of other APP metabolites and γ-secretase substrates in the etio...

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ژورنال

عنوان ژورنال: eLife

سال: 2016

ISSN: 2050-084X

DOI: 10.7554/elife.15645