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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

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 n...

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Principais autores: Zahra Ashkavand, Kerry C. Ryan, Jocelyn T. Laboy, Ritika Patel, Brian Geller, Kenneth R. Norman
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2025-08-01
Serier:Neurobiology of Disease
Fag:
Alzheimer's disease
C. elegans
Presenilin
Mitochondria
Lysosomes
Calcium
Online adgang:http://www.sciencedirect.com/science/article/pii/S0969996125001779
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