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Article

Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease.

Annals of neurology - 1 Aug 2025

Sun Qi-Ying, Tang Fu-Liang, Zhou Yao, Pan Hong-Xu, Zhou Xun, Zhao Yu-Wen, He Run-Cheng, Zeng Sheng, Wang Jun-Pu, Lin Wei, Zeng Wei-Qian, Wang Dan-Dan, Wang Xue-Jing, Liu Zhen-Hua, Xu Qian, Li Jin-Chen, Yan Xin-Xiang, Guo Ji-Feng, Qiu Jian, Tang Bei-Sha

Abstract excerpt

OBJECTIVE: Despite substantial advancements in uncovering the genetic basis of Parkinson's disease (PD), a significant portion of cases characterized by familial PD remain genetically elusive. Here, we reported that biallelic variants in EPG5, a key autophagy gene responsible for Vici syndrome, are associated with PD. METHODS: Whole-exome sequencing (WES) was performed in the first cohort including 171 pedigrees...

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Autophagy
Autophagy-Related Proteins
Cohort Studies
Exome Sequencing
Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Parkinson Disease

Vesicular Transport Proteins

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Identifiers

PMID: 40192014
DOI: 10.1002/ana.27242

Genes

EPG5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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