Abstract
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.
Publication types
-
Research Support, Non-U.S. Gov't
-
Review
MeSH terms
-
Animals
-
Cyclic AMP Response Element-Binding Protein
-
Disease Models, Animal
-
Gene Conversion
-
Gene Deletion
-
Humans
-
Mice
-
Muscular Atrophy, Spinal / etiology
-
Muscular Atrophy, Spinal / genetics*
-
Muscular Atrophy, Spinal / therapy
-
Nerve Tissue Proteins / genetics*
-
Nerve Tissue Proteins / physiology
-
Phenotype
-
RNA-Binding Proteins
-
SMN Complex Proteins
Substances
-
Cyclic AMP Response Element-Binding Protein
-
Nerve Tissue Proteins
-
RNA-Binding Proteins
-
SMN Complex Proteins