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Article

Alzheimer's disease-causing presenilin-1 mutations have deleterious effects on mitochondrial function.

Theranostics - 1 Jan 2021

Han Jihoon, Park Heejin, Maharana Chinmoyee, Gwon A-Ryeong, Park Jinsu, Baek Seung Hyun, Bae Han-Gyu, Cho Yoonsuk, Kim Hark Kyun, Sul Jae Hoon, Lee Jeongmi, Kim Eunae, Kim Junsik, Cho Yongeun, Park Sunyoung, Palomera Leon F, Arumugam Thiruma V, Mattson Mark P, Jo Dong-Gyu

Abstract excerpt

Mitochondrial dysfunction and oxidative stress are frequently observed in the early stages of Alzheimer's disease (AD). Studies have shown that presenilin-1 (PS1), the catalytic subunit of γ-secretase whose mutation is linked to familial AD (FAD), localizes to the mitochondrial membrane and regulates its homeostasis. Thus, we investigated how five PS1 mutations (A431E, E280A, H163R, M146V, and Δexon9) observed in...

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Identifiers

PMID: 34522215
DOI: 10.7150/thno.59776
PMCID: PMC8419044

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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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