Biallelic Variants in EPG5 Gene Are Associated with Parkinson\'s Disease - 成果

首页 > 成果 > 详情

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

认领

导出

Link by DOI

反馈

作者信息关键词期刊信息基础信息归属信息摘要

成果类型：

期刊论文

作者：

Sun, Qi-Ying;Tang, Fu-Liang;Zhou, Yao;Pan, Hong-Xu;Zhou, Xun;...

通讯作者：

Qiu, Jian;Tang, BS;Qiu, J

作者机构：

[Zhou, Yao; Sun, Qi-Ying; Zhao, Yu-Wen; Tang, BS; Xu, Qian; Qiu, Jian; Yan, Xin-Xiang; Liu, Zhen-Hua; Qiu, J; Li, Jin-Chen; Guo, Ji-Feng; Tang, Bei-Sha; Pan, Hong-Xu; Zhou, Xun; Zeng, Wei-Qian; Tang, Fu-Liang] Cent South Univ, Xiangya Hosp, Dept Neurol, Dept Geriatr, Changsha 410008, Peoples R China.

[Sun, Qi-Ying; Qiu, Jian; Qiu, J; Zeng, Wei-Qian; Wang, Dan-dan; Tang, Fu-Liang] Cent South Univ, Xiangya Hosp, Hunan Key Lab Mol Precis Med, Changsha 41008, Peoples R China.

[Sun, Qi-Ying; Zhao, Yu-Wen; Xu, Qian; Qiu, Jian; Yan, Xin-Xiang; Liu, Zhen-Hua; Li, Jin-Chen; Guo, Ji-Feng; Tang, Bei-Sha] Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China.

[Sun, Qi-Ying; Zhao, Yu-Wen; Xu, Qian; Yan, Xin-Xiang; Liu, Zhen-Hua; Li, Jin-Chen; Guo, Ji-Feng; Tang, Bei-Sha] Cent South Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Peoples R China.

[Zeng, Sheng; He, Run-Cheng] Cent South Univ, Xiangya Hosp 2, Dept Neurol, Dept Geriatr, Changsha, Peoples R China.

通讯机构：

[Tang, BS ; Qiu, J ; Qiu, J] C

Cent South Univ, Xiangya Hosp, Dept Neurol, Dept Geriatr, Changsha 410008, Peoples R China.

Cent South Univ, Xiangya Hosp, Hunan Key Lab Mol Precis Med, Changsha 41008, Peoples R China.

语种：

英文

期刊：

Annals of Neurology

ISSN：

0364-5134

年：

2025

DOI：

10.1002/ana.27242

基金类别：

Hunan Innovative Province Construction Project; Guangzhou Women and Children's Medical Center, Guangzhou Medical University - National Natural Science Foundation of China [U20A20355, 82171256]; National Health Commission of China [2024ZD0530500]; Department of Science and Technology of Hunan Province [2019RS1010]; Natural Science Foundation of Hunan Province [2022JJ30914]; China Postdoctoral Science Foundation [2022 M713530]; [2021SK1010]

机构署名：

本校为其他机构

院系归属：

医学院

摘要：

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 with autosomal recessive PD (ARPD), 1,746 cases of sporadic early-onset PD (sEOPD, age at onset ≤ 50 years) and 1,652 healthy contr...

反馈

产权有误：本人成果被他人认领

数据有误：数据基本信息有误

归属有误：成果的院系归属、机构署名归属有误

其他原因：

验证码：

看不清楚，换一个

确定

取消

成果认领

标题：

用户	作者	通讯作者	--
	请选择	请选择	--

确定

取消

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

反馈

成果认领

提示

该栏目需要登录且有访问权限才可以访问