Therapeutics development for triplet repeat expansion diseases

被引：118

作者：

Di Prospero, NA ^{[1
]}

Fischbeck, KH ^{[1
]}

机构：

[1] NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA

来源：

NATURE REVIEWS GENETICS | 2005年 / 6卷 / 10期

关键词：

D O I：

10.1038/nrg1690

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The underlying genetic mutations for many inherited neurodegenerative disorders have been identified in recent years. One frequent type of mutation is trinucleotide repeat expansion. Depending on the location of the repeat expansion, the mutation might result in a loss of function of the disease gene, a toxic gain of function or both. Disease gene identification has led to the development of model systems for investigating disease mechanisms and evaluating treatments. Examination of experimental findings reveals similarities in disease mechanisms as well as possibilities for treatment.

引用

页码：756 / 765

页数：10

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