The molecular bases of spinal muscular atrophy.
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.
Frugier
Tony
T
Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Evry, E.9913, Genopole, 2 rue Gaston Crémieux, CP 5724, 91057, Evry, France.
Nicole
Sophie
S
Cifuentes-Diaz
Carmen
C
Melki
Judith
J
D000818:Animals; D017362:Cyclic AMP Response Element-Binding Protein; D004195:Disease Models, Animal; D005785:Gene Conversion; D017353:Gene Deletion; D006801:Humans; D051379:Mice; D009134:Muscular Atrophy, Spinal / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000502:physiology; D010641:Phenotype; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins