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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Vydáno v:JCI Insight
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2016
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5033939/
https://ncbi.nlm.nih.gov/pubmed/27699224
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.87908
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