• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

相似文献

1
All in the Family: Repeats and ALS/FTD.家族性 ALS/FTD:重复突变与 ALS/FTD。
Trends Neurosci. 2018 May;41(5):247-250. doi: 10.1016/j.tins.2018.03.010.
2
[Impact of C9orf72 on Japanese Patients with Amytrophic Lateral Sclerosis (ALS)/Frontotemporal Dementia (FTD)].C9orf72对日本肌萎缩侧索硬化症(ALS)/额颞叶痴呆(FTD)患者的影响
Brain Nerve. 2019 Nov;71(11):1190-1208. doi: 10.11477/mf.1416201429.
3
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.C9ORF72 肌萎缩侧索硬化症和额颞叶痴呆中的反义转录物的 RAN 蛋白和 RNA 焦点。
Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):E4968-77. doi: 10.1073/pnas.1315438110. Epub 2013 Nov 18.
4
Molecular Mechanisms of Neurodegeneration Related to Hexanucleotide Repeat Expansion.与六核苷酸重复序列扩增相关的神经退行性变的分子机制
Behav Neurol. 2019 Jan 15;2019:2909168. doi: 10.1155/2019/2909168. eCollection 2019.
5
Disease Mechanisms of Repeat Expansions.重复扩展的疾病机制。
Cold Spring Harb Perspect Med. 2018 Apr 2;8(4):a024224. doi: 10.1101/cshperspect.a024224.
6
C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels.C9orf72 肌萎缩侧索硬化症-额颞叶变性:多个层面自噬溶酶体途径失调的最新证据。
Autophagy. 2021 Nov;17(11):3306-3322. doi: 10.1080/15548627.2021.1872189. Epub 2021 Feb 26.
7
Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene.与C9orf72基因六核苷酸重复扩增相关的肌萎缩侧索硬化症/额颞叶痴呆的致病决定因素及机制
Neurosci Lett. 2017 Jan 1;636:16-26. doi: 10.1016/j.neulet.2016.09.007. Epub 2016 Sep 13.
8
The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD.RAN 翻译的羧基末端 GGGGCC 核苷酸重复扩展调节 ALS/FTD 模型中的毒性。
Acta Neuropathol Commun. 2020 Aug 4;8(1):122. doi: 10.1186/s40478-020-01002-8.
9
Screening for the C9ORF72 repeat expansion in a greek frontotemporal dementia cohort.希腊额颞叶痴呆队列中C9ORF72重复扩增的筛查。
Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):152-154. doi: 10.1080/21678421.2017.1400070. Epub 2017 Nov 23.
10
The frequency of the C9orf72 expansion in a Brazilian population.巴西人群中 C9orf72 扩展的频率。
Neurobiol Aging. 2018 Jun;66:179.e1-179.e4. doi: 10.1016/j.neurobiolaging.2018.01.007. Epub 2018 Jan 31.

引用本文的文献

1
Expanding horizons of tandem repeats in biology and medicine: Why 'genomic dark matter' matters.拓展串联重复序列在生物学和医学领域的视野:为何“基因组暗物质”至关重要。
Emerg Top Life Sci. 2023 Dec 13;7(3):239-47. doi: 10.1042/ETLS20230075.
2
Sigma-1 receptor chaperones rescue nucleocytoplasmic transport deficit seen in cellular and Drosophila ALS/FTD models.Sigma-1 受体伴侣可挽救细胞和果蝇 ALS/FTD 模型中观察到的核质转运缺陷。
Nat Commun. 2020 Nov 4;11(1):5580. doi: 10.1038/s41467-020-19396-3.
3
DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms.DNA 超甲基化与不稳定重复序列疾病:转录沉默的范例,用于破解致病机制的基础。
Genes (Basel). 2020 Jun 22;11(6):684. doi: 10.3390/genes11060684.
4
Diseases of the nERVous system: retrotransposon activity in neurodegenerative disease.神经系统疾病:神经退行性疾病中的逆转录转座子活性
Mob DNA. 2019 Jul 26;10:32. doi: 10.1186/s13100-019-0176-1. eCollection 2019.

本文引用的文献

1
Decoding ALS: from genes to mechanism.解码肌萎缩侧索硬化症:从基因到机制
Nature. 2016 Nov 10;539(7628):197-206. doi: 10.1038/nature20413.
2
C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.携带有 C9orf72 基因重复突变的 BAC 小鼠模型表现出运动功能缺陷和 ALS/FTD 的神经退行性特征。
Neuron. 2016 May 4;90(3):521-34. doi: 10.1016/j.neuron.2016.04.005. Epub 2016 Apr 21.
3
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs.靶向含GGGGCC的RNA的反义寡核苷酸可减轻C9ORF72中与肌萎缩侧索硬化症/额颞叶痴呆相关的重复序列扩增导致的毒性。
Neuron. 2016 May 4;90(3):535-50. doi: 10.1016/j.neuron.2016.04.006. Epub 2016 Apr 21.
4
Review: an update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations.综述:额颞叶变性的临床、遗传和病理学方面的最新进展
Neuropathol Appl Neurobiol. 2015 Dec;41(7):858-81. doi: 10.1111/nan.12250. Epub 2015 Jul 6.
5
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.C9ORF72 肌萎缩侧索硬化症和额颞叶痴呆中的反义转录物的 RAN 蛋白和 RNA 焦点。
Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):E4968-77. doi: 10.1073/pnas.1315438110. Epub 2013 Nov 18.
6
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.靶向降解 sense 和 antisense C9orf72 RNA 焦点作为 ALS 和额颞叶变性的治疗方法。
Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):E4530-9. doi: 10.1073/pnas.1318835110. Epub 2013 Oct 29.
7
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.非传统翻译 C9ORF72 GGGGCC 扩展产生特定于 c9FTD/ALS 的不溶性多肽。
Neuron. 2013 Feb 20;77(4):639-46. doi: 10.1016/j.neuron.2013.02.004. Epub 2013 Feb 12.
8
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.C9orf72 基因 GGGGCC 重复序列可被翻译为 FTLD/ALS 中的聚集二肽重复蛋白。
Science. 2013 Mar 15;339(6125):1335-8. doi: 10.1126/science.1232927. Epub 2013 Feb 7.
9
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.C9ORF72 上的六核苷酸重复扩展是 9p21 连锁 ALS-FTD 的原因。
Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21.
10
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.非编码区 C9ORF72 内的 GGGGCC 六核苷酸重复扩展导致 9 号染色体连锁额颞叶痴呆和肌萎缩侧索硬化症。
Neuron. 2011 Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21.

家族性 ALS/FTD:重复突变与 ALS/FTD。

All in the Family: Repeats and ALS/FTD.

机构信息

Center for Neurogenetics, College of Medicine, University of Florida, Gainesville, FL, USA; Departments of Molecular Genetics and Neurology, College of Medicine, University of Florida, Gainesville, FA, USA.

Center for Neurogenetics, College of Medicine, University of Florida, Gainesville, FL, USA; Departments of Molecular Genetics and Neurology, College of Medicine, University of Florida, Gainesville, FA, USA; McKnight Brain Institute, University of Florida, Gainesville, FL, USA; Genetics Institute, University of Florida, Gainesville, FL, USA.

出版信息

Trends Neurosci. 2018 May;41(5):247-250. doi: 10.1016/j.tins.2018.03.010.

DOI:10.1016/j.tins.2018.03.010
PMID:29703376
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5965280/
Abstract

In 2011, an intronic (GC)•(GC) expansion was shown to cause the most common forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This discovery linked ALS with a clinically distinct form of dementia and a larger group of microsatellite repeat diseases, and catalyzed basic and translational research.

摘要

2011 年,研究表明内含子(GC)•(GC)扩展会导致最常见的肌萎缩侧索硬化症(ALS)和额颞叶痴呆(FTD)。这一发现将 ALS 与一种临床上明显不同的痴呆症以及更大的微卫星重复疾病联系起来,并推动了基础和转化研究。