Investigating the Protective Role of the Mitochondrial 2158 T > C Variant in Parkinson's Disease.
作者信息
Akçimen Fulya, van Midden Vesna, Akerman S Can, Makarious Mary B, Rothstein Jeffrey D, Fang Zih-Hua, Bandres-Ciga Sara
机构信息
Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
Department of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
出版信息
Mov Disord. 2024 Sep;39(9):1645-1647. doi: 10.1002/mds.29892. Epub 2024 Jun 28.
Abstract
摘要
相似文献
1
Investigating the Protective Role of the Mitochondrial 2158 T > C Variant in Parkinson's Disease.探究线粒体2158 T > C变异在帕金森病中的保护作用。
Mov Disord. 2024 Sep;39(9):1645-1647. doi: 10.1002/mds.29892. Epub 2024 Jun 28.
2
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease.杂合性 PRKN 突变很常见，但不会增加帕金森病的风险。
Brain. 2022 Jun 30;145(6):2077-2091. doi: 10.1093/brain/awab456.
3
Mitochondrial DNA variants, haplogroups and risk of Parkinson's disease: A systematic review and meta-analysis.线粒体 DNA 变体、单倍群与帕金森病风险：系统评价和荟萃分析。
Parkinsonism Relat Disord. 2024 Aug;125:107044. doi: 10.1016/j.parkreldis.2024.107044. Epub 2024 Jun 19.
4
A naturally occurring variant of SHLP2 is a protective factor in Parkinson's disease.SHLP2 的一种自然发生的变体是帕金森病的保护因素。
Mol Psychiatry. 2024 Feb;29(2):505-517. doi: 10.1038/s41380-023-02344-0. Epub 2024 Jan 3.
5
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.帕金森病变异检测与披露：北美研究项目“PD基因计划”
Brain. 2024 Aug 1;147(8):2668-2679. doi: 10.1093/brain/awae142.
6
SGLT2 inhibitors vs. metformin for Parkinson's disease risk reduction in type 2 diabetes.钠-葡萄糖协同转运蛋白2抑制剂与二甲双胍对2型糖尿病患者帕金森病风险的降低作用比较
J Parkinsons Dis. 2025 Jul 17:1877718X251359391. doi: 10.1177/1877718X251359391.
7
A blood-based marker of mitochondrial DNA damage in Parkinson's disease.帕金森病中线粒体 DNA 损伤的血液标志物。
Sci Transl Med. 2023 Aug 30;15(711):eabo1557. doi: 10.1126/scitranslmed.abo1557.
8
Impact of Y chromosome loss on the risk of Parkinson's disease and progression.Y染色体缺失对帕金森病风险及病情进展的影响。
EBioMedicine. 2025 May 29;117:105769. doi: 10.1016/j.ebiom.2025.105769.
9
Structural changes in the retina and serum HMGB1 levels are associated with decreased cognitive function in patients with Parkinson's disease.视网膜结构变化和血清高迁移率族蛋白 B1 水平与帕金森病患者认知功能下降有关。
Neurobiol Dis. 2024 Jan;190:106379. doi: 10.1016/j.nbd.2023.106379. Epub 2023 Dec 15.
10
CSF Mitochondrial DNA: Biomarker of Body Composition and Energy Metabolism in Parkinson's Disease.
Ann Clin Transl Neurol. 2025 Sep 1. doi: 10.1002/acn3.70183.
本文引用的文献
1
A naturally occurring variant of SHLP2 is a protective factor in Parkinson's disease.SHLP2 的一种自然发生的变体是帕金森病的保护因素。
Mol Psychiatry. 2024 Feb;29(2):505-517. doi: 10.1038/s41380-023-02344-0. Epub 2024 Jan 3.
2
A genomic mutational constraint map using variation in 76,156 human genomes.基于 76156 个人类基因组的变异，绘制出基因组突变约束图谱。
Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6.
3
Mitochondrial DNA variation across 56,434 individuals in gnomAD.gnomAD 数据库中 56434 个人的线粒体 DNA 变异
Genome Res. 2022 Mar;32(3):569-582. doi: 10.1101/gr.276013.121. Epub 2022 Jan 24.
4
Genetics of Parkinson's disease: An introspection of its journey towards precision medicine.帕金森病的遗传学：对精准医学之旅的反思。
Neurobiol Dis. 2020 Apr;137:104782. doi: 10.1016/j.nbd.2020.104782. Epub 2020 Jan 25.
5
The genetic architecture of Parkinson's disease.帕金森病的遗传结构。
Lancet Neurol. 2020 Feb;19(2):170-178. doi: 10.1016/S1474-4422(19)30287-X. Epub 2019 Sep 11.
6
Second-generation PLINK: rising to the challenge of larger and richer datasets.第二代PLINK：应对更大、更丰富数据集的挑战
Gigascience. 2015 Feb 25;4:7. doi: 10.1186/s13742-015-0047-8. eCollection 2015.
7
Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease.帕金森病中线粒体 DNA 变异的两阶段关联研究和荟萃分析。
Neurology. 2013 May 28;80(22):2042-8. doi: 10.1212/WNL.0b013e318294b434. Epub 2013 May 3.
8
METAL: fast and efficient meta-analysis of genomewide association scans.METAL：全基因组关联扫描的快速高效元分析。
Bioinformatics. 2010 Sep 1;26(17):2190-1. doi: 10.1093/bioinformatics/btq340. Epub 2010 Jul 8.
9
Mitochondrial dysfunction in Parkinson's disease.帕金森病中的线粒体功能障碍
Biochim Biophys Acta. 2010 Jan;1802(1):29-44. doi: 10.1016/j.bbadis.2009.08.013. Epub 2009 Sep 3.
10
Hereditary early-onset Parkinson's disease caused by mutations in PINK1.由PINK1基因突变引起的遗传性早发性帕金森病。
Science. 2004 May 21;304(5674):1158-60. doi: 10.1126/science.1096284. Epub 2004 Apr 15.
Zotero 插件