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Article

Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.

Neuron - 4 Mar 2015

Xia Dan, Watanabe Hirotaka, Wu Bei, Lee Sang Hun, Li Yan, Tsvetkov Evgeny, Bolshakov Vadim Y, Shen Jie, Kelleher Raymond J

Abstract excerpt

Presenilins play essential roles in memory formation, synaptic function, and neuronal survival. Mutations in the Presenilin-1 (PSEN1) gene are the major cause of familial Alzheimer's disease (FAD). How PSEN1 mutations cause FAD is unclear, and pathogenic mechanisms based on gain or loss of function have been proposed. Here, we generated Psen1 knockin (KI) mice carrying the FAD mutation L435F or C410Y. Remarkably,...

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Identifiers

PMID: 25741723
DOI: 10.1016/j.neuron.2015.02.010
PMCID: PMC4358812

Genes

PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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