个人中心| | 帮助
高级检索
当前位置： 首页 > 详情页

Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia(Open Access)

| 认领 | 导出 | |

文献详情

资源类型：
Pubmed体系：
作者：
Longjiang Xu[a] * ; Zhaoqing Yang[a] * ; Wenwu Li[b] * ; Zhiling Luo[c] ; Changjun Zhang[d] ; Xiaoqin Huang[a] ; Shaohui Ma[a] ; Yuzhou Long[e] ; Yan Chu[e] ; Yuan Qian[f] ; Xiuyun Wang[a] ; Hao Sun[a,*1] ;
机构： [a]The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, China [b]The Department of Neurology, The People's Hospital of ChuXiong Yi Autonomous Prefecture, Chuxiong, China [c]The Department of Ultrasound, Yunnan Fuwai Cardiovascular Hospital, Kunming, China [d]Reproductive Medicine Center, Renmin Hospital, Hubei University of Medicine, Shiyan, China [e]The Second People's Hospital of Yunnan Province, Kunming, China [f]Yunnan Key Laboratory of Laboratory Medicine, First Affiliated Hospital of Kunming Medical University, Kunming, China
出处：
DOI： 10.1016/j.nbd.2020.104851
ISSN：

关键词： Chinese Late-onset dystonia Novel mutation TOR1A

摘要：
Background: Variations in TOR1A were thought to be associated with early-onset isolated dystonia. The variant S287Y (NM_000113.2: c.860C > A, p. Ser287Tyr, rs766483672) was found in our late-onset isolated dystonia patient. This missense variant is adjacent to R288Q (c.863G > A, p. Arg288Gln), which was reported to be associated with isolated dystonia. The potentially pathogenic role of S287Y is not conclusively known. Methods: Cytological and molecular biological analyses were performed in vitro to determine whether this variant damages the structure and function of the cell. Results: Compared with the SH-SY5Y cells overexpressing wild-type TOR1A, the cells overexpressing the protein with S287Y have an enlarged peri-nuclear space. The same changes in nuclear morphology were also found in the cells overexpressing the pathogenic variants ΔE (NM_000113.2:c.904_906delGAG, p. Glu302del), F205I (NM_000113.2:c.613 T > A, p. Phe205Ile), and R288Q (NM_000113.2:c.863G > A, p. Arg288Gln). Mutated proteins with S287Y presented a higher tendency to form dimers under reducing conditions. The same tendencies were observed in other mutated proteins but not in wild-type torsinA. Conclusions: TorsinA with S287Y damages the structure of the cell nucleus and may be a novel pathogenic mutation that causes isolated dystonia. © 2020

基金：
The authors gratefully acknowledge the research grants that supported this study, including National Natural Science Foundation of China No. 31571304 to Hao Sun. Yunnan Basic Research Program Key Project No. 2018FA010 to Hao Sun. This research was also supported by the Yunnan Science and Technology talents and platform Project , Yunnan Training Programme for the advanced Talents of Health and Medical Technology No. D-201803 to Hao Sun, CAMS Innovation Fund for Medical Sciences (CIFMS) 2016-I2M-3-026 to Hao Sun. This research was also supported by the Joint Special Project on Basic Research of Yunnan Province Local Universities No. 2018FH001-082 to Wenwu Li. Yunnan Training Programme for the advanced Talents of Health and Medical Technology.
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2020]版：
大类 | 2 区 医学
小类 | 2 区 神经科学
最新[2023]版：
大类 | 2 区 医学
小类 | 2 区 神经科学
第一作者：
第一作者机构： [a]The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, China
共同第一作者：
通讯作者：
通讯机构： [a]The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, China [*1]The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, 935 Jiaoling Road, Kunming, Yunnan 650118, China.
推荐引用方式(GB/T 7714)：
Longjiang Xu,Zhaoqing Yang,Wenwu Li,et al.Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia(Open Access)[J].Neurobiology of disease.2020,140:104851.doi:10.1016/j.nbd.2020.104851.
APA：
Longjiang Xu,Zhaoqing Yang,Wenwu Li,Zhiling Luo,Changjun Zhang...&Hao Sun.(2020).Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia(Open Access).Neurobiology of disease,140,
MLA：
Longjiang Xu,et al."Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia(Open Access)".Neurobiology of disease 140.(2020):104851

相关文献

[1]A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I [2]A Rare Variant in TOR1A Exon 5 Associated With Isolated Dystonia in Southwestern Chinese [3]A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1 [4]A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family [5]A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II [6]Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene [7]A novel report of Cys1298Gly mutation in exon 24 of NOTCH3 gene in a Chinese family with CADASIL [8]A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria [9]A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing [10]Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing

资源点击量：82493 今日访问量：0 总访问量：681 更新日期：2025-01-01 建议使用谷歌、火狐浏览器 常见问题

版权所有©2020 云南省第一人民医院 技术支持：重庆聚合科技有限公司 地址：云南省昆明市西山区金碧路157号