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Article

Identification of Alzheimer's disease-associated rare coding variants in the ECE2 gene.

JCI insight - 27 Feb 2020

Liao Xinxin, Cai Fang, Sun Zhanfang, Zhang Yun, Wang Juelu, Jiao Bin, Guo Jifeng, Li Jinchen, Liu Xixi, Guo Lina, Zhou Yafang, Wang Junling, Yan Xinxiang, Jiang Hong, Xia Kun, Li Jiada, Tang Beisha, Shen Lu, Song Weihong

Abstract excerpt

Accumulation of amyloid β protein (Aβ) due to increased generation and/or impaired degradation plays an important role in Alzheimer's disease (AD) pathogenesis. In this report, we describe the identification of rare coding mutations in the endothelin-converting enzyme 2 (ECE2) gene in 1 late-onset AD family, and additional case-control cohort analysis indicates ECE2 variants associated with the risk of developing...

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PMID: 32102983
DOI: 10.1172/jci.insight.135119
PMCID: PMC7101146

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