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Article

Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.

The Journal of experimental medicine - 16 Nov 2015

Szaruga Maria, Veugelen Sarah, Benurwar Manasi, Lismont Sam, Sepulveda-Falla Diego, Lleo Alberto, Ryan Natalie S, Lashley Tammaryn, Fox Nick C, Murayama Shigeo, Gijsen Harrie, De Strooper Bart, Chávez-Gutiérrez Lucía

Abstract excerpt

Presenilin (PSEN) pathogenic mutations cause familial Alzheimer's disease (AD [FAD]) in an autosomal-dominant manner. The extent to which the healthy and diseased alleles influence each other to cause neurodegeneration remains unclear. In this study, we assessed γ-secretase activity in brain samples from 15 nondemented subjects, 22 FAD patients harboring nine different mutations in PSEN1, and 11 sporadic AD (SAD)...

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Source

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Identifiers

PMID: 26481686
DOI: 10.1084/jem.20150892
PMCID: PMC4647268

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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