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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:JCI Insight
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 2016
Gaiak:
Research Article
Sarrera elektronikoa: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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