Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus.
作者信息
Blauwendraat Cornelis, Bras Jose M, Nalls Mike A, Lewis Patrick A, Hernandez Dena G, Singleton Andrew B
机构信息
Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
UK Dementia Research Institute at UCL and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK.
出版信息
Mov Disord. 2018 Nov;33(11):1821-1823. doi: 10.1002/mds.103. Epub 2018 Oct 9.
Abstract
摘要
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本文引用的文献
1
The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal.GBA基因变体E326K与帕金森病相关，并解释了一个全基因组关联信号。
Neurosci Lett. 2017 Sep 29;658:48-52. doi: 10.1016/j.neulet.2017.08.040. Epub 2017 Aug 19.
2
Activation of β-Glucocerebrosidase Reduces Pathological α-Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons.β-葡萄糖脑苷脂酶的激活可减少帕金森病患者中脑神经元的病理性α-突触核蛋白并恢复溶酶体功能。
J Neurosci. 2016 Jul 20;36(29):7693-706. doi: 10.1523/JNEUROSCI.0628-16.2016.
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NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases.NeuroX，一个用于研究神经退行性疾病的快速高效基因分型平台。
Neurobiol Aging. 2015 Mar;36(3):1605.e7-12. doi: 10.1016/j.neurobiolaging.2014.07.028. Epub 2014 Aug 4.
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Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.全基因组关联数据的大规模荟萃分析确定了帕金森病的六个新风险位点。
Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27.
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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.帕金森病中葡萄糖脑苷脂酶突变的多中心分析。
N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281.
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Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.阿什肯纳兹犹太人中葡萄糖脑苷脂酶基因突变与帕金森病
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