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Mutation analysis of the ECE1 gene in late-onset Alzheimer's disease.

Neurobiology of aging - 1 Sept 2023

Sun Zhanfang, Zhao Cheng, Liu Xueming, Zhang Peng, Wang Xiang, Man Xiao, Li Zhen, Du Yifeng, Che Xiangqian, Xiang Yuanyuan

Abstract excerpt

We recently identified a rare coding mutation (R186C) in the ECE2 gene in a late-onset AD (LOAD) family, and demonstrated ECE2 is a risk gene for AD development. ECE1 is a homologous enzyme that shares catalytic activity with ECE2. Although ECE1 has been regarded as a potential candidate gene for AD, few studies have investigated the role of ECE1 variants in patients with AD. In this study, we aimed to...

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PMID: 37271044
DOI: 10.1016/j.neurobiolaging.2023.05.002

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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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