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Huntington's disease: a decade beyond gene discovery.

作者信息

Hogarth Penelope

机构信息

Oregon Health & Science University, Campus Mail OP-32, 3181 SW Sam Jackson Park Road, Portland, OR 97239-3098, USA.

出版信息

Curr Neurol Neurosci Rep. 2003 Jul;3(4):279-84. doi: 10.1007/s11910-003-0003-3.

DOI:10.1007/s11910-003-0003-3
PMID:12930696
Abstract

Huntington's disease is a dominantly inherited neurodegenerative disease that causes a progressive movement disorder, cognitive decline, and varying degrees of psychiatric dysfunction. The identification of the mutant gene in 1993 paved the way for a decade of basic research. The resultant advances in our understanding of the pathogenesis of the disorder are moving us toward rational therapies to slow the progression and delay the onset of the illness.

摘要

相似文献

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2
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引用本文的文献

1
Huntington disease: who seeks presymptomatic genetic testing, why and what are the outcomes?亨廷顿舞蹈症:谁会寻求症状前基因检测,原因是什么,结果如何?
J Genet Couns. 2014 Oct;23(5):754-61. doi: 10.1007/s10897-013-9678-z. Epub 2014 Jan 8.
2
Couples' coping in prodromal Huntington disease: a mixed methods study.前驱期亨廷顿病患者配偶的应对方式:一项混合方法研究。
J Genet Couns. 2012 Oct;21(5):662-70. doi: 10.1007/s10897-012-9480-3. Epub 2012 Jan 26.
3
Perceived stress in prodromal Huntington disease.前驱期亨廷顿病患者的感知压力。

本文引用的文献

1
Huntington's disease: a randomized, controlled trial using the NMDA-antagonist amantadine.亨廷顿舞蹈症:一项使用N-甲基-D-天冬氨酸拮抗剂金刚烷胺的随机对照试验。
Neurology. 2002 Sep 10;59(5):694-9. doi: 10.1212/wnl.59.5.694.
2
Environmental enrichment slows disease progression in R6/2 Huntington's disease mice.环境富集减缓R6/2亨廷顿舞蹈症小鼠的疾病进展。
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Mouse models of Huntington's disease.亨廷顿舞蹈症的小鼠模型
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4
Couples' attributions for work function changes in prodromal Huntington disease.前驱期亨廷顿舞蹈病患者工作功能变化的夫妻归因
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Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi.亨廷顿相互作用蛋白Hip-1和新型伴侣Hippi对半胱天冬酶-8的募集与激活。
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5
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6
Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila.组蛋白去乙酰化酶抑制剂可阻止果蝇中多聚谷氨酰胺依赖性神经变性。
Nature. 2001 Oct 18;413(6857):739-43. doi: 10.1038/35099568.
7
High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia.在不列颠哥伦比亚省,新诊断出的亨廷顿病患者中有四分之一发病率高且无家族病史。
Clin Genet. 2001 Sep;60(3):198-205. doi: 10.1034/j.1399-0004.2001.600305.x.
8
A randomized, placebo-controlled trial of coenzyme Q10 and remacemide in Huntington's disease.辅酶Q10与瑞玛西胺治疗亨廷顿舞蹈症的随机安慰剂对照试验。
Neurology. 2001 Aug 14;57(3):397-404. doi: 10.1212/wnl.57.3.397.
9
Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease.亨廷顿舞蹈病中亨廷顿蛋白介导的脑源性神经营养因子基因转录缺失。
Science. 2001 Jul 20;293(5529):493-8. doi: 10.1126/science.1059581. Epub 2001 Jun 14.
10
Impairment of the ubiquitin-proteasome system by protein aggregation.蛋白质聚集对泛素-蛋白酶体系统的损害。
Science. 2001 May 25;292(5521):1552-5. doi: 10.1126/science.292.5521.1552.