Parkinson's Disease with a Homozygous Mutation and Clinical Onset at the Age of 5 Years.
作者信息
Delva Aline, Race Valérie, Boon Elizabet, Van Laere Koen, Vandenberghe Wim
机构信息
Department of Neurosciences KU Leuven Leuven Belgium.
Department of Neurology University Hospitals Leuven Leuven Belgium.
出版信息
Mov Disord Clin Pract. 2020 Dec 2;8(1):149-152. doi: 10.1002/mdc3.13114. eCollection 2021 Jan.
Abstract
摘要
相似文献
1
Parkinson's Disease with a Homozygous Mutation and Clinical Onset at the Age of 5 Years.5岁起病的帕金森病伴纯合子突变
Mov Disord Clin Pract. 2020 Dec 2;8(1):149-152. doi: 10.1002/mdc3.13114. eCollection 2021 Jan.
2
Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.常染色体显性遗传早发性帕金森病由 PARK7 中的纯合移码变异引起：临床特征和文献更新。
Parkinsonism Relat Disord. 2019 Jul;64:308-311. doi: 10.1016/j.parkreldis.2019.03.013. Epub 2019 Mar 22.
3
Generation of an induced pluripotent stem cell line, FJMUUHi001-A, from a hereditary Parkinson's disease patient with homozygous mutation of c.189dupA in PARK7.从一名患有 PARK7 基因 c.189dupA 纯合突变的遗传性帕金森病患者中生成诱导多能干细胞系 FJMUUHi001-A。
Stem Cell Res. 2021 Mar;51:102175. doi: 10.1016/j.scr.2021.102175. Epub 2021 Jan 13.
4
Porcine DJ-1: cloning of PARK7 cDNA, sequence comparison, expression analysis and chromosomal localization.猪DJ-1：PARK7 cDNA的克隆、序列比较、表达分析及染色体定位
Cytogenet Genome Res. 2007;116(1-2):93-9. doi: 10.1159/000097423.
5
Impaired D2 receptor-dependent dopaminergic transmission in prefrontal cortex of awake mouse model of Parkinson's disease.帕金森病清醒模型小鼠前额叶皮层中 D2 受体依赖性多巴胺能传递受损。
Brain. 2019 Oct 1;142(10):3099-3115. doi: 10.1093/brain/awz243.
6
DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology.DJ-1 相关帕金森病（PARK7）与路易体病理相关。
Brain. 2016 Jun;139(Pt 6):1680-7. doi: 10.1093/brain/aww080. Epub 2016 Apr 16.
7
[Analysis of a patient with early-onset Parkinson's disease and PARK7 gene variation].[一例早发型帕金森病伴PARK7基因变异患者的分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Oct 10;36(10):957-960. doi: 10.3760/cma.j.issn.1003-9406.2019.10.002.
8
Generation of iPSC line from a Parkinson patient with PARK7 mutation and CRISPR-edited Gibco human episomal iPSC line to mimic PARK7 mutation.从一位携带 PARK7 突变的帕金森病患者和经 CRISPR 编辑的 Gibco 人 episomal iPSC 系中生成 iPSC 系，以模拟 PARK7 突变。
Stem Cell Res. 2021 Aug;55:102506. doi: 10.1016/j.scr.2021.102506. Epub 2021 Aug 17.
9
Oxidized DJ-1 as a possible biomarker of Parkinson's disease.氧化型DJ-1作为帕金森病的一种潜在生物标志物。
J Clin Biochem Nutr. 2014 May;54(3):138-44. doi: 10.3164/jcbn.13-108. Epub 2014 Apr 9.
10
Dysregulation in the Brain Protein Profile of Zebrafish Lacking the Parkinson's Disease-Related Protein DJ-1.帕金森病相关蛋白 DJ-1 缺失的斑马鱼大脑蛋白图谱失调。
Mol Neurobiol. 2019 Dec;56(12):8306-8322. doi: 10.1007/s12035-019-01667-w. Epub 2019 Jun 19.
引用本文的文献
1
Genetic and clinical study of in Japanese Parkinson's disease.日本帕金森病的遗传学与临床研究。 （注：原文“in Japanese Parkinson's disease”前缺少关键研究对象等内容，翻译可能不太完整准确，推测完整可能是关于某方面在日本帕金森病中的研究等，但仅根据现有文本只能这样翻译）
Heliyon. 2024 Jul 26;10(15):e35271. doi: 10.1016/j.heliyon.2024.e35271. eCollection 2024 Aug 15.
2
DJ-1 is an essential downstream mediator in PINK1/parkin-dependent mitophagy.DJ-1 是 PINK1/parkin 依赖性线粒体自噬的必需下游介质。
Brain. 2022 Dec 19;145(12):4368-4384. doi: 10.1093/brain/awac313.
本文引用的文献
1
Peripheral synucleinopathy in a patient with Parkinson disease, cataracts, and hearing loss.一名患有帕金森病、白内障和听力损失患者的外周α-突触核蛋白病
Neurology. 2019 Jun 4;92(23):1113-1115. doi: 10.1212/WNL.0000000000007614. Epub 2019 Apr 26.
2
Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation.由新型DJ1突变引起的非典型帕金森病-肌张力障碍综合征
Mov Disord Clin Pract. 2014 Apr 10;1(1):45-49. doi: 10.1002/mdc3.12008. eCollection 2014 Apr.
3
Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis.青少年亨廷顿病的生物学和临床表现：回顾性分析。
Lancet Neurol. 2018 Nov;17(11):986-993. doi: 10.1016/S1474-4422(18)30294-1. Epub 2018 Sep 19.
4
Genotype-Phenotype Relations for the Parkinson's Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review.帕金森病基因 Parkin、PINK1、DJ1 的基因型-表型关系：MDSGene 系统评价。
Mov Disord. 2018 May;33(5):730-741. doi: 10.1002/mds.27352. Epub 2018 Apr 11.
5
Is olfactory impairment in Parkinson disease related to phenotypic or genotypic characteristics?帕金森病中的嗅觉障碍与表型或基因型特征有关吗？
Neurology. 2008 Dec 2;71(23):1877-82. doi: 10.1212/01.wnl.0000336651.48596.c7.
6
Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease.荷兰早发性帕金森病患者的基因型和表型特征。
Mov Disord. 2009 Jan 30;24(2):196-203. doi: 10.1002/mds.22287.
7
Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.α-突触核蛋白基因座重复是家族性帕金森病的一个病因。
Lancet. 2004;364(9440):1167-9. doi: 10.1016/S0140-6736(04)17103-1.
8
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.与常染色体隐性早发性帕金森病相关的DJ-1基因突变。
Science. 2003 Jan 10;299(5604):256-9. doi: 10.1126/science.1077209. Epub 2002 Nov 21.
Zotero 插件