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Unraveling the genes implicated in Alzheimer's disease.揭示与阿尔茨海默病相关的基因。
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本文引用的文献

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Associations Between Genetic Variants in 19p13 and 19q13 Regions and Susceptibility to Alzheimer Disease: A Meta-Analysis.19号染色体13区p13和19q13基因变异与阿尔茨海默病易感性的关联:一项荟萃分析。
Med Sci Monit. 2016 Jan 22;22:234-43. doi: 10.12659/msm.895622.
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The ATP-Binding Cassette Transporter-2 (ABCA2) Overexpression Modulates Sphingosine Levels and Transcription of the Amyloid Precursor Protein (APP) Gene.ATP结合盒转运蛋白2(ABCA2)过表达调节鞘氨醇水平及淀粉样前体蛋白(APP)基因的转录。
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LRP1 Downregulates the Alzheimer's β-Secretase BACE1 by Modulating Its Intraneuronal Trafficking.LRP1 通过调节 BACE1 的细胞内转运来下调阿尔茨海默病的β-分泌酶。
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The nitric oxide synthase 3 G894T polymorphism associated with Alzheimer's disease risk: a meta-analysis.与阿尔茨海默病风险相关的一氧化氮合酶3 G894T多态性:一项荟萃分析。
Sci Rep. 2015 Sep 4;5:13598. doi: 10.1038/srep13598.
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A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease.CST3基因中的一个错义变异对年龄相关性黄斑变性的易感性产生隐性影响,类似于它与阿尔茨海默病的关联。
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TREM2 lipid sensing sustains the microglial response in an Alzheimer's disease model.在阿尔茨海默病模型中,TREM2脂质感知维持小胶质细胞反应。
Cell. 2015 Mar 12;160(6):1061-71. doi: 10.1016/j.cell.2015.01.049. Epub 2015 Feb 26.
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Influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease.SORL1基因中的遗传变异对阿尔茨海默病表现的影响。
Neurobiol Aging. 2015 Mar;36(3):1605.e13-20. doi: 10.1016/j.neurobiolaging.2014.12.007. Epub 2014 Dec 11.
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Influence of the rs1080985 Single Nucleotide Polymorphism of the CYP2D6 Gene and APOE Polymorphism on the Response to Donepezil Treatment in Patients with Alzheimer's Disease in China.中国人群中CYP2D6基因rs1080985单核苷酸多态性及APOE多态性对阿尔茨海默病患者多奈哌齐治疗反应的影响
Dement Geriatr Cogn Dis Extra. 2014 Nov 15;4(3):450-6. doi: 10.1159/000367596. eCollection 2014 Sep.
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PICALM modulates autophagy activity and tau accumulation.PICALM调节自噬活性和tau蛋白积累。
Nat Commun. 2014 Sep 22;5:4998. doi: 10.1038/ncomms5998.
10
An intronic PICALM polymorphism, rs588076, is associated with allelic expression of a PICALM isoform.内含子PICALM多态性rs588076与一种PICALM亚型的等位基因表达相关。
Mol Neurodegener. 2014 Aug 29;9:32. doi: 10.1186/1750-1326-9-32.

揭示与阿尔茨海默病相关的基因。

Unraveling the genes implicated in Alzheimer's disease.

作者信息

Giri Mohan, Shah Abhilasha, Upreti Bibhuti, Rai Jayanti Chamling

机构信息

National Center for Rheumatic Diseases, Ratopul, Kathmandu 44600, Nepal.

出版信息

Biomed Rep. 2017 Aug;7(2):105-114. doi: 10.3892/br.2017.927. Epub 2017 Jun 14.

DOI:10.3892/br.2017.927
PMID:28781776
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5526178/
Abstract

Alzheimer's disease (AD) is a heterogeneous neurodegenerative disorder and it is the most common form of dementia in the elderly. Early onset AD is caused by mutations in three genes: () and . Late onset AD (LOAD) is complex and apolipoprotein E is the only unanimously accepted genetic risk factor for its development. Various genes implicated in AD have been identified using advanced genetic technologies, however, there are many additional genes that remain unidentified. The present review highlights the genetics of early and LOAD and summarizes the genes involved in different signaling pathways. This may provide insight into neurodegenerative disease research and will facilitate the development of effective strategies to combat AD.

摘要

阿尔茨海默病(AD)是一种异质性神经退行性疾病,是老年人中最常见的痴呆形式。早发性AD由三个基因的突变引起:()和。晚发性AD(LOAD)较为复杂,载脂蛋白E是其发展过程中唯一被一致认可的遗传风险因素。使用先进的基因技术已经鉴定出了与AD相关的各种基因,然而,仍有许多其他基因尚未被鉴定出来。本综述重点介绍了早发性和晚发性AD的遗传学,并总结了参与不同信号通路的基因。这可能为神经退行性疾病研究提供见解,并将促进对抗AD的有效策略的发展。