Open access
Jul 2026
Correlations of PSEN1, PSEN2, and APP missense variants on the production of Aβ peptides against variant effect prediction
Abstract INTRODUCTION Early‐onset Alzheimer's disease (EOAD) is mostly caused by mutations in presenilin‐1/2 (PSEN1, PSEN2) and amyloid precursor protein (APP) genes. Both genetic and experimental evidence have supported the PSEN‐APP amyloid hypothesis as the leading pathogenesis of Alzheimer's disease (AD). Thus far,...
Jiyeon Song, Serina Yan, Sophia Liu et al.
· Alzheimer's & Dementia · 0 citations