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- W2023286752 abstract "Mutations in the genes encoding presenilin 1 (PS1) and presenilin 2 (PS2) account for the majority of the cases of familial early-onset Alzheimer’s disease (FAD). Presenilins (PSs) facilitate the intramembraneous cleavage of amyloid precursor protein (APP), coined γ-secretase cleavage, which generates β-amyloid peptides (Aβ). Considerable evidence suggests that FAD-linked PS variants exert their pathogenic influence by selectively elevating the levels of highly fibrillogenic Aβ42 peptides. In addition, numerous other functions have been ascribed to PSs based on subcellular localization, protein interactions, loss of function studies, and intramembraneous γ-secretase cleavage of growing number of substrates. This review summarizes the diverse physiological functions that are regulated by PSs beyond APP metabolism." @default.
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- W2023286752 date "2008-05-01" @default.
- W2023286752 modified "2023-10-15" @default.
- W2023286752 title "ROLE OF PRESENILINS IN LIPID HOMEOSTASIS" @default.
- W2023286752 doi "https://doi.org/10.1016/s1567-5688(08)70113-2" @default.
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