TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease.
作者信息
Rutherford Nicola J, Carrasquillo Minerva M, Li Ma, Bisceglio Gina, Menke Joshua, Josephs Keith A, Parisi Joseph E, Petersen Ronald C, Graff-Radford Neill R, Younkin Steven G, Dickson Dennis W, Rademakers Rosa
机构信息
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA.
出版信息
Neurology. 2012 Aug 14;79(7):717-8. doi: 10.1212/WNL.0b013e318264e3ac. Epub 2012 Aug 1.
Abstract
摘要
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本文引用的文献
1
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.TMEM106B 调节颗粒蛋白前体水平和 GRN 突变携带者额颞叶痴呆的外显率。
Neurology. 2011 Feb 1;76(5):467-74. doi: 10.1212/WNL.0b013e31820a0e3b. Epub 2010 Dec 22.
2
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.7p21 常见变异与含有 TDP-43 包涵体的额颞叶变性有关。
Nat Genet. 2010 Mar;42(3):234-9. doi: 10.1038/ng.536. Epub 2010 Feb 14.
3
Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity.TDP-43的异常切割会增强聚集和细胞毒性。
Proc Natl Acad Sci U S A. 2009 May 5;106(18):7607-12. doi: 10.1073/pnas.0900688106. Epub 2009 Apr 21.
4
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.GRN基因miR-659结合位点的常见变异是TDP43阳性额颞叶痴呆的主要危险因素。
Hum Mol Genet. 2008 Dec 1;17(23):3631-42. doi: 10.1093/hmg/ddn257. Epub 2008 Aug 21.
5
Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.颗粒蛋白前体介导TAR DNA结合蛋白43的半胱天冬酶依赖性切割。
J Neurosci. 2007 Sep 26;27(39):10530-4. doi: 10.1523/JNEUROSCI.3421-07.2007.
6
TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease.海马硬化和阿尔茨海默病中的TDP-43免疫反应性。
Ann Neurol. 2007 May;61(5):435-45. doi: 10.1002/ana.21154.
7
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.额颞叶痴呆和肌萎缩侧索硬化症中泛素化的TDP-43
Science. 2006 Oct 6;314(5796):130-3. doi: 10.1126/science.1134108.
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