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Enrichment of rare variants in E3 ubiquitin ligase genes in Early onset Parkinson's disease.

Neurobiology of aging - 1 Jan 2022

Gu Xiaojing, Hou Yanbing, Chen Yongping, Ou Ruwei, Cao Bei, Wei Qianqian, Zhang Lingyu, Song Wei, Zhao Bi, Wu Ying, Li Chunyu, Shang Huifang

Abstract excerpt

Altered ubiquitin signaling and disrupted protein quality control have been implicated in the pathogenesis of PD. The aim of the study was to systematically examine the overlaps between E3 ubiquitin ligase genes and early onset PD (EOPD). A total of 695 EOPD patients were analyzed aggregate burden for rare variants (MAF <0.001 and MAF <0.0001) in a total of 44 E3 ubiquitin ligase genes causing disorders involved...

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PMID: 34544586
DOI: 10.1016/j.neurobiolaging.2021.08.013

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