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Identification of presenilin mutations that have sufficient gamma-secretase proteolytic activity to mediate Notch signaling but disrupt organelle and neuronal health

20 May 2025

Abstract excerpt

Mutations that cause familial Alzheimer's disease (AD) are predominantly found in the presenilin (PSEN) encoding genes PSEN1 and PSEN2. While the association of PSEN mutations with familial AD have been known for over 20 years, the mechanism underlying the impact these mutations have on disease is not fully understood. PSENs are phylogenetically conserved proteins that are found in diverse multicellular organisms...

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PMID: 40404063
DOI: 10.1016/j.nbd.2025.106961

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