The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease.
The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease.
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DOI：
10.1038/nrn.2016.38
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发表时间：
2016-06
期刊：
影响因子：
--
通讯作者：
Rothstein JD
中科院分区：
文献类型：
--
作者：
Haeusler AR;Donnelly CJ;Rothstein JD
9号染色体开放阅读框架72(C9orf72)基因中的核苷酸重复序列扩展(NRE)是第一个与多种神经系统疾病有关的此类突变，包括肌萎缩侧索硬化症和额颞痴呆。C9orf72 NRE参与这些疾病的致病机制包括C9orf72功能丧失和由NRE编码的有毒RNA和蛋白质物种驱动的C9orf72功能获得机制。这些机制与几种细胞缺陷有关，包括核质运输缺陷和核应激，在患者和动物模型中都观察到了这些缺陷。
A nucleotide repeat expansion (NRE) within the chromosome 9 open reading frame 72 (C9orf72) gene was the first of this type of mutation to be linked to multiple neurological conditions, including amyotrophic lateral sclerosis and frontotemporal dementia. The pathogenic mechanisms through which the C9orf72 NRE contributes to these disorders include loss of C9orf72 function and gain-of-function mechanisms of C9orf72 driven by toxic RNA and protein species encoded by the NRE. These mechanisms have been linked to several cellular defects — including nucleocytoplasmic trafficking deficits and nuclear stress — that have been observed in both patients and animal models.
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影响因子：
16.2
作者：
Ash PE;Bieniek KF;Gendron TF;Caulfield T;Lin WL;Dejesus-Hernandez M;van Blitterswijk MM;Jansen-West K;Paul JW 3rd;Rademakers R;Boylan KB;Dickson DW;Petrucelli L
通讯作者：
Petrucelli L
影响因子：
12.7
作者：
Cooper-Knock J;Higginbottom A;Stopford MJ;Highley JR;Ince PG;Wharton SB;Pickering-Brown S;Kirby J;Hautbergue GM;Shaw PJ
通讯作者：
Shaw PJ
DOI：
10.1093/brain/awu120
发表时间：
2014-07
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Cooper-Knock J;Walsh MJ;Higginbottom A;Robin Highley J;Dickman MJ;Edbauer D;Ince PG;Wharton SB;Wilson SA;Kirby J;Hautbergue GM;Shaw PJ
通讯作者：
Shaw PJ
影响因子：
4.1
作者：
Cammas, Anne;Dubrac, Alexandre;Millevoi, Stefania
通讯作者：
Millevoi, Stefania
影响因子：
9.8
作者：
Chen, YZ;Bennett, CL;Chance, PF
通讯作者：
Chance, PF