The molecular bases of spinal muscular atrophy

被引：99

作者：

Frugier, T ^{[1
]}

Nicole, S ^{[1
]}

Cifuentes-Diaz, C ^{[1
]}

Melki, J ^{[1
]}

机构：

[1] Univ Evry, INSERM, Mol Neurogenet Lab, F-91057 Evry, France

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2002年 / 12卷 / 03期

关键词：

D O I：

10.1016/S0959-437X(02)00301-5

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Spinal muscular atrophy (SMA) is a common recessive autosomal disorder characterized by degeneration of motor neurons of the spinal cord. SMA is caused by mutations of the Survival of motor neuron gene that encodes a multifunctional protein, and mouse models have been generated. These advances represent starting points towards an understanding of the pathophysiology of this disease and the design of therapeutic strategies in SMA.

引用

页码：294 / 298

页数：5

共 51 条

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