Is APOE ε4 required for Alzheimer's disease to develop in TREM2 p.R47H variant carriers?
作者信息
Guerreiro R, Orme T, Naj A C, Kuzma A B, Schellenberg G D, Bras J
机构信息
UK Dementia Research Institute at UCL (UK DRI), London, UK.
Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.
出版信息
Neuropathol Appl Neurobiol. 2019 Feb;45(2):187-189. doi: 10.1111/nan.12517. Epub 2018 Oct 24.
Abstract
摘要
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Is APOE ε4 required for Alzheimer's disease to develop in TREM2 p.R47H variant carriers?对于携带TREM2 p.R47H变异的个体，阿尔茨海默病的发生是否需要APOE ε4？
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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.全外显子组测序研究鉴定出新型罕见和常见的与阿尔茨海默病相关的变异，这些变异参与免疫反应和转录调控。
Mol Psychiatry. 2020 Aug;25(8):1859-1875. doi: 10.1038/s41380-018-0112-7. Epub 2018 Aug 14.
2
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3
The Alzheimer's Disease Sequencing Project: Study design and sample selection.阿尔茨海默病测序项目：研究设计与样本选择。
Neurol Genet. 2017 Oct 13;3(5):e194. doi: 10.1212/NXG.0000000000000194. eCollection 2017 Oct.
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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.PLCG2、ABI3和TREM2中的罕见编码变异表明小胶质细胞介导的先天性免疫与阿尔茨海默病有关。
Nat Genet. 2017 Sep;49(9):1373-1384. doi: 10.1038/ng.3916. Epub 2017 Jul 17.
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TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy.小鼠和人类中TREM2单倍体不足损害小胶质细胞屏障功能，导致淀粉样蛋白压实减少和严重轴突营养不良。
Neuron. 2016 Oct 5;92(1):252-264. doi: 10.1016/j.neuron.2016.09.016.
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TREM2 Binds to Apolipoproteins, Including APOE and CLU/APOJ, and Thereby Facilitates Uptake of Amyloid-Beta by Microglia.TREM2 与载脂蛋白结合，包括 APOE 和 CLU/APOJ，从而促进小胶质细胞摄取淀粉样β。
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