Blocking p62-dependent SMN degradation ameliorates spinal muscular atrophy disease phenotypes

Spinal muscular atrophy (SMA), a degenerative motor neuron (MN) disease, caused by loss of functional survival of motor neuron (SMN) protein due to SMN1 gene mutations, is a leading cause of infant mortality. Increasing SMN levels ameliorates the disease phenotype and is unanimously accepted as a th...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Rodriguez-Muela, Natalia, Parkhitko, Andrey, Grass, Tobias, Gibbs, Rebecca M., Norabuena, Erika M., Perrimon, Norbert, Singh, Rajat, Rubin, Lee L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6025996/
https://ncbi.nlm.nih.gov/pubmed/29672276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI95231
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