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Article

Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: An APP Val551Met and a PSEN2 His169Asn.

International journal of molecular sciences - 18 Apr 2023

Bae Heewon, Shim Kyu Hwan, Yoo Jang, Yang Young-Soon, An Seong Soo A, Kang Min-Ju

Abstract excerpt

The etiology of early-onset Alzheimer's disease (EOAD) is associated with alterations in the production of amyloid beta (Aβ) species caused by mutations in the APP, PSEN1, and PSEN2 genes. Mutations affect intra- or inter-molecular interactions and processes between the γ-secretase complex and amyloid precursor protein (APP), leading to the aberrant sequential cleavage of Aβ species. A 64-year-old woman presented...

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Identifiers

PMID: 37108607
DOI: 10.3390/ijms24087446
PMCID: PMC10140908

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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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