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

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...

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Main Authors: Zahra Ashkavand, Kerry C. Ryan, Jocelyn T. Laboy, Ritika Patel, Brian Geller, Kenneth R. Norman
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Neurobiology of Disease
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Online Access:http://www.sciencedirect.com/science/article/pii/S0969996125001779
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