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Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

The autosomal recessive neuromuscular disease spinal muscular atrophy (SMA) is caused by loss of survival motor neuron (SMN) protein. Molecular pathways that are disrupted downstream of SMN therefore represent potentially attractive therapeutic targets for SMA. Here, we demonstrate that therapeutic...

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Detalles Bibliográficos
Autores principales:	Powis, Rachael A., Karyka, Evangelia, Boyd, Penelope, Côme, Julien, Jones, Ross A., Zheng, Yinan, Szunyogova, Eva, Groen, Ewout J.N., Hunter, Gillian, Thomson, Derek, Wishart, Thomas M., Becker, Catherina G., Parson, Simon H., Martinat, Cécile, Azzouz, Mimoun, Gillingwater, Thomas H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Clinical Investigation 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5033939/ https://www.ncbi.nlm.nih.gov/pubmed/27699224 http://dx.doi.org/10.1172/jci.insight.87908

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