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Of SMN in mice and men: a therapeutic opportunity Swoboda KJJ Clin Invest 2011[Aug]; 121 (8): 2978-81Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that predominantly affects motor neurons, resulting in progressive muscular atrophy and weakness. SMA arises due to insufficient survival motor neuron (SMN) protein levels as a result of homozygous disruption of the SMN1 gene. SMN upregulation is a promising and potent treatment strategy for this currently incurable condition. In this issue of the JCI, two independent research groups report novel observations in mouse models of severe SMA that provide hope that this approach will afford meaningful benefit to individuals with SMA.|*Gene Expression Regulation[MESH]|Animals[MESH]|Apoptosis[MESH]|Exons[MESH]|Homozygote[MESH]|Humans[MESH]|Mice[MESH]|Models, Genetic[MESH]|Muscle, Skeletal/pathology[MESH]|Muscular Atrophy, Spinal/*therapy[MESH]|Neurodegenerative Diseases/genetics/pathology/*physiopathology[MESH]|Phenotype[MESH]|Prolactin/metabolism[MESH]|Survival of Motor Neuron 1 Protein/*genetics[MESH] |
