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Article

Cortical neurodegeneration caused by Psen1 mutations is independent of Aβ.

Proceedings of the National Academy of Sciences of the United States of America - 20 Aug 2024

Yan Kuo, Zhang Chen, Kang Jongkyun, Montenegro Paola, Shen Jie

Abstract excerpt

Mutations in the PSEN genes are the major cause of familial Alzheimer's disease, and presenilin (PS) is the catalytic subunit of γ-secretase, which cleaves type I transmembrane proteins, including the amyloid precursor protein (APP) to release Aβ peptides. While PS plays an essential role in the protection of neuronal survival, PSEN mutations also increase the ratio of Aβ42/Aβ40. Thus, it remains unresolved...

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Source

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Identifiers

PMID: 39136994
DOI: 10.1073/pnas.2409343121
PMCID: PMC11348310

Genes

APP

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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