Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations.
作者信息
du Moulin Marcel, Nürnberg Peter, Crow Yanick J, Rutsch Frank
出版信息
Proc Natl Acad Sci U S A. 2011 Jun 28;108(26):E232; author reply E233. doi: 10.1073/pnas.1104699108. Epub 2011 Jun 1.
Abstract
摘要
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1
Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations.脑血管病变是与SAMHD1突变相关的艾卡迪-古铁雷斯综合征的常见特征。
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2
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SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.SAMHD1 是一种核酸结合蛋白，由于与 Aicardi-Goutières 综合征相关的突变而发生定位错误。
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本文引用的文献
1
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.SAMHD1 基因纯合突变导致脑血管病和早发性卒中。
Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5372-7. doi: 10.1073/pnas.1014265108. Epub 2011 Mar 14.
2
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.脑动脉狭窄和中风：SAMHD1 中 Arg164X 突变引起的 Aicardi-Goutières 综合征的新特征与细胞因子表达改变有关。
Hum Mutat. 2010 Nov;31(11):E1836-50. doi: 10.1002/humu.21357.
3
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.Aicardi-Goutières 综合征中的脑内大动脉病提示 SAMHD1 在血管稳态中的作用。
Dev Med Child Neurol. 2010 Aug;52(8):725-32. doi: 10.1111/j.1469-8749.2010.03727.x.
4
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.与艾卡迪-古铁雷斯综合征相关的突变表明SAMHD1是先天免疫反应的调节因子。
Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun 14.
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