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The molecular bases of spinal muscular atrophy
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The molecular bases of spinal muscular atrophy

Tony Frugier, Sophie Nicole, Carmen Cifuentes-Diaz et Judith Melki
Current opinion in genetics & development, Vol.12(3), pp.294-298
01/06/2002
PMID: 12076672

Résumé

motor neuron mouse model pathophysiology pre-mRNA splicing SMN spinal muscular atrophy spliceosomal biogenesis therapeutics
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.

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