Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy

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 indivi...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 2011
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3148744/
https://ncbi.nlm.nih.gov/pubmed/21785219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI57291
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