Article
Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy.
The Journal of clinical investigation - 1 Aug 2011
Lutz Cathleen M, Kariya Shingo, Patruni Sunita, Osborne Melissa A, Liu Don, Henderson Christopher E, Li Darrick K, Pellizzoni Livio, Rojas José, Valenzuela David M, Murphy Andrew J, Winberg Margaret L, Monani Umrao R
Abstract excerpt
Spinal muscular atrophy (SMA) is a common neuromuscular disorder in humans. In fact, it is the most frequently inherited cause of infant mortality, being the result of mutations in the survival of motor neuron 1 (SMN1) gene that reduce levels of SMN protein. Restoring levels of SMN protein in individuals with SMA is perceived to be a viable therapeutic option, but the efficacy of such a strategy once symptoms are...
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