在白种人家庭中，缺乏UQCRC1与常染色体显性帕金森病相关性的证据。 - Suppr

Suppr

超能文献

Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families.

作者信息

Courtin Thomas, Tesson Christelle, Corvol Jean-Christophe, Lesage Suzanne, Brice Alexis

机构信息

Sorbonne Université, INSERM, CNRS, Institut du Cerveau - Paris Brain Institute - ICM, 75013, Paris, France.

Hôpital Pitié-Salpêtrière, DMU BioGe'M, AP-HP, 75013, Paris, France.

出版信息

Neurogenetics. 2021 Oct;22(4):365-366. doi: 10.1007/s10048-021-00647-4. Epub 2021 Jul 21.

DOI:10.1007/s10048-021-00647-4

PMID:34286409

Abstract

摘要

相似文献

Lack of evidence for association of UQCRC1 with autosomal dominant Parkinson's disease in Caucasian families.在白种人家庭中，缺乏UQCRC1与常染色体显性帕金森病相关性的证据。

Neurogenetics. 2021 Oct;22(4):365-366. doi: 10.1007/s10048-021-00647-4. Epub 2021 Jul 21.

Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans.在欧洲人群中，UQCRC1 与帕金森病之间缺乏关联的证据。

Neurobiol Aging. 2021 May;101:297.e1-297.e4. doi: 10.1016/j.neurobiolaging.2020.10.030. Epub 2020 Nov 2.

VPS35 and EIF4G1 mutations are rare in Parkinson's disease among Indians.VPS35 和 EIF4G1 突变在印度人群中的帕金森病中较为罕见。

Neurobiol Aging. 2013 Oct;34(10):2442.e1-3. doi: 10.1016/j.neurobiolaging.2013.04.025. Epub 2013 May 28.

The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease.α-突触核蛋白Ala53Thr突变并非家族性帕金森病的常见病因：对230例欧洲患者的研究。帕金森病遗传易感性欧洲联盟。

Ann Neurol. 1998 Aug;44(2):270-3. doi: 10.1002/ana.410440221.

Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.在白种人群中，缺乏证据表明TMEM230基因变异在帕金森病风险中起作用。

Neurobiol Aging. 2017 Feb;50:167.e11-167.e13. doi: 10.1016/j.neurobiolaging.2016.10.004. Epub 2016 Oct 11.

Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.线粒体 UQCRC1 突变导致常染色体显性遗传帕金森病伴多发性神经病。

Brain. 2020 Dec 5;143(11):3352-3373. doi: 10.1093/brain/awaa279.

G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients.高加索帕金森病患者中的G309D和W437OPA PINK1突变

Acta Neurol Scand. 2005 Jun;111(6):351-2. doi: 10.1111/j.1600-0404.2005.00383.x.

Population-Based Genetic Studies: The Search for Causative Variants in Parkinson's Disease.基于人群的基因研究：帕金森病致病变异的探寻

Mov Disord. 2015 Sep;30(10):1297-300. doi: 10.1002/mds.26341. Epub 2015 Jul 30.

Independent occurrence of I2020T mutation in the kinase domain of the leucine rich repeat kinase 2 gene in Japanese and German Parkinson's disease families.日本和德国帕金森病家族中富含亮氨酸重复激酶2基因激酶结构域I2020T突变的独立发生情况。

Neurosci Lett. 2007 Apr 24;417(1):21-3. doi: 10.1016/j.neulet.2007.02.086. Epub 2007 Mar 16.

Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease.中国家族性帕金森病中CHCHD2基因的突变分析

Neurobiol Aging. 2015 Nov;36(11):3117.e7-3117.e8. doi: 10.1016/j.neurobiolaging.2015.08.010. Epub 2015 Aug 15.

引用本文的文献

Protein-truncating variants in UQCRC1 are associated with Parkinson's disease: evidence from half-million people.UQCRC1基因中的蛋白质截短变异与帕金森病相关：来自五十万人的证据。

NPJ Parkinsons Dis. 2025 May 9;11(1):120. doi: 10.1038/s41531-025-00987-0.

Genetic Movement Disorders Commonly Seen in Asians.亚洲人常见的遗传性运动障碍

Mov Disord Clin Pract. 2023 May 8;10(6):878-895. doi: 10.1002/mdc3.13737. eCollection 2023 Jun.

Recent advances in novel mutation genes of Parkinson's disease.帕金森病新型突变基因的研究进展。

J Neurol. 2023 Aug;270(8):3723-3732. doi: 10.1007/s00415-023-11781-4. Epub 2023 May 24.

variants in early-onset and familial Parkinson's disease in a Taiwanese cohort.台湾队列中早发性和家族性帕金森病的变异

Front Neurol. 2022 Dec 9;13:1090406. doi: 10.3389/fneur.2022.1090406. eCollection 2022.

A genome on shaky ground: exploring the impact of mitochondrial DNA integrity on Parkinson's disease by highlighting the use of cybrid models.摇摇欲坠的基因组：通过强调使用杂种细胞模型来探索线粒体 DNA 完整性对帕金森病的影响。

Cell Mol Life Sci. 2022 May 5;79(5):283. doi: 10.1007/s00018-022-04304-3.

Current Status of Next-Generation Sequencing Approaches for Candidate Gene Discovery in Familial Parkinson´s Disease.家族性帕金森病候选基因发现的新一代测序方法现状

Front Genet. 2022 Mar 1;13:781816. doi: 10.3389/fgene.2022.781816. eCollection 2022.

本文引用的文献

Activation of α7 nicotinic acetylcholine receptor ameliorates HIV-associated neurology and neuropathology.α7烟碱型乙酰胆碱受体的激活可改善HIV相关的神经学和神经病理学。

Brain. 2021 Dec 16;144(11):3355-3370. doi: 10.1093/brain/awab251.

Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans.在欧洲人群中，UQCRC1 与帕金森病之间缺乏关联的证据。

Neurobiol Aging. 2021 May;101:297.e1-297.e4. doi: 10.1016/j.neurobiolaging.2020.10.030. Epub 2020 Nov 2.

Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.线粒体 UQCRC1 突变导致常染色体显性遗传帕金森病伴多发性神经病。

Brain. 2020 Dec 5;143(11):3352-3373. doi: 10.1093/brain/awaa279.

The lack of association between ubiquinol-cytochrome c reductase core protein I (UQCRC1) variants and Parkinson's disease in an eastern Chinese population.泛醇 - 细胞色素c还原酶核心蛋白I（UQCRC1）变体与中国东部人群帕金森病之间不存在关联。

CNS Neurosci Ther. 2020 Sep;26(9):990-992. doi: 10.1111/cns.13436. Epub 2020 Jul 14.

Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.周围神经病变与帕金森症：广泛的临床与致病谱

J Peripher Nerv Syst. 2014 Dec;19(4):333-42. doi: 10.1111/jns.12099.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验