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帕金森病发病途径的遗传学分析。

Genetic analysis of pathways to Parkinson disease.

机构信息

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

出版信息

Neuron. 2010 Oct 21;68(2):201-6. doi: 10.1016/j.neuron.2010.10.014.

DOI:10.1016/j.neuron.2010.10.014
PMID:20955928
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2997424/
Abstract

In this review I outline the arguments as to whether we should consider Parkinson disease one or more than one entity and discuss genetic findings from Mendelian and whole-genome association analysis in that context. I discuss what the demonstration of disease spread implies for our analysis of the genetic and epidemiologic risk factors for disease and outline the surprising fact that we now have genetically identified on the order of half our risk for developing the disease.

摘要

在这篇综述中,我概述了我们是否应该将帕金森病视为一种或多种实体的论点,并在该背景下讨论孟德尔和全基因组关联分析的遗传发现。我讨论了疾病传播的证明对我们分析疾病的遗传和流行病学风险因素意味着什么,并概述了一个令人惊讶的事实,即我们现在已经通过基因确定了大约一半的患病风险。

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本文引用的文献

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A QUICK screen for Lrrk2 interaction partners--leucine-rich repeat kinase 2 is involved in actin cytoskeleton dynamics.快速筛选 Lrrk2 相互作用伙伴——富含亮氨酸重复激酶 2 参与肌动蛋白细胞骨架动态变化。
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3
Alpha-synuclein promotes SNARE-complex assembly in vivo and in vitro.α-突触核蛋白在体内和体外促进 SNARE 复合物的组装。
Science. 2010 Sep 24;329(5999):1663-7. doi: 10.1126/science.1195227. Epub 2010 Aug 26.
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Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease.常见的 HLA 区域内的遗传变异与晚发性散发性帕金森病有关。
Nat Genet. 2010 Sep;42(9):781-5. doi: 10.1038/ng.642. Epub 2010 Aug 15.
5
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.早发性 L-多巴反应性帕金森病伴锥体束征,由 ATP13A2、PLA2G6、FBXO7 和 spatacsin 突变引起。
Mov Disord. 2010 Sep 15;25(12):1791-800. doi: 10.1002/mds.23221.
6
Association of the human leucocyte antigen region with susceptibility to Parkinson's disease.人类白细胞抗原区域与帕金森病易感性的关联。
J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):890-1. doi: 10.1136/jnnp.2008.162883. Epub 2010 May 12.
7
Parkinson's disease: insights from pathways.帕金森病:通路研究的新视角
Hum Mol Genet. 2010 Apr 15;19(R1):R21-7. doi: 10.1093/hmg/ddq167. Epub 2010 Apr 26.
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PINK1-linked parkinsonism is associated with Lewy body pathology.PINK1 相关性帕金森病与路易体病理相关。
Brain. 2010 Apr;133(Pt 4):1128-42. doi: 10.1093/brain/awq051. Epub 2010 Mar 30.
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The biology and pathology of the familial Parkinson's disease protein LRRK2.家族性帕金森病蛋白 LRRK2 的生物学和病理学。
Mov Disord. 2010;25 Suppl 1:S40-3. doi: 10.1002/mds.22717.
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DJ-1, PINK1, and their effects on mitochondrial pathways.DJ-1、PINK1 及其对线粒体途径的影响。
Mov Disord. 2010;25 Suppl 1(Suppl 1):S44-8. doi: 10.1002/mds.22713.