神经退行性疾病：亨廷顿病基因中的“五十度灰” - Suppr

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超能文献

Neurodegenerative disease: 'fifty shades of grey' in the Huntington disease gene.

作者信息

Squitieri Ferdinando

出版信息

Nat Rev Neurol. 2013 Aug;9(8):421-2. doi: 10.1038/nrneurol.2013.128. Epub 2013 Jun 25.

DOI:10.1038/nrneurol.2013.128

PMID:23797246

Abstract

摘要

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本文引用的文献

Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS.在 PHAROS 中对亨廷顿舞蹈症中间 CAG 重复扩展表型的特征描述。

Neurology. 2013 May 28;80(22):2022-7. doi: 10.1212/WNL.0b013e318294b304. Epub 2013 Apr 26.

Measures of growth in children at risk for Huntington disease.亨廷顿病高危儿童的生长测量。

Neurology. 2012 Aug 14;79(7):668-74. doi: 10.1212/WNL.0b013e3182648b65. Epub 2012 Jul 18.

Substance abuse may be a risk factor for earlier onset of Huntington disease.物质滥用可能是亨廷顿病发病更早的一个风险因素。

J Neurol. 2012 Sep;259(9):1824-31. doi: 10.1007/s00415-012-6415-8. Epub 2012 Jan 25.

DNA instability in postmitotic neurons.有丝分裂后神经元中的DNA不稳定性。

Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3467-72. doi: 10.1073/pnas.0800048105. Epub 2008 Feb 25.

Psychiatric symptoms in Huntington's disease before diagnosis: the predict-HD study.亨廷顿病诊断前的精神症状：预测亨廷顿病（Predict-HD）研究

Biol Psychiatry. 2007 Dec 15;62(12):1341-6. doi: 10.1016/j.biopsych.2006.11.034. Epub 2007 May 3.

RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice.RORα介导的浦肯野细胞发育决定成年SCA1小鼠的疾病严重程度。

Cell. 2006 Nov 17;127(4):697-708. doi: 10.1016/j.cell.2006.09.036.

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.亨廷顿蛋白中多聚谷氨酰胺重复序列的长度与线粒体能量代谢功能障碍有关。

Hum Mol Genet. 2005 Oct 1;14(19):2871-80. doi: 10.1093/hmg/ddi319. Epub 2005 Aug 22.

Microsatellite instability generates diversity in brain and sociobehavioral traits.微卫星不稳定性在大脑和社会行为特征中产生多样性。

Science. 2005 Jun 10;308(5728):1630-4. doi: 10.1126/science.1111427.

Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset.委内瑞拉家族研究表明，遗传和环境因素会调节亨廷顿舞蹈症的发病年龄。

Proc Natl Acad Sci U S A. 2004 Mar 9;101(10):3498-503. doi: 10.1073/pnas.0308679101. Epub 2004 Mar 1.

DNA stability and schizophrenia in twins.双胞胎中的DNA稳定性与精神分裂症

Am J Med Genet B Neuropsychiatr Genet. 2003 Jul 1;120B(1):1-10. doi: 10.1002/ajmg.b.20010.

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