A chemical chaperone improves muscle function in mice with a RyR1 mutation

Mutations in the RYR1 gene cause severe myopathies. Mice with an I4895T mutation in the type 1 ryanodine receptor/Ca(2+) release channel (RyR1) display muscle weakness and atrophy, but the underlying mechanisms are unclear. Here we show that the I4895T mutation in RyR1 decreases the amplitude of the...

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Pubblicato in:Nat Commun
Autori principali: Lee, Chang Seok, Hanna, Amy D., Wang, Hui, Dagnino-Acosta, Adan, Joshi, Aditya D., Knoblauch, Mark, Xia, Yan, Georgiou, Dimitra K., Xu, Jianjun, Long, Cheng, Amano, Hisayuki, Reynolds, Corey, Dong, Keke, Martin, John C., Lagor, William R., Rodney, George G., Sahin, Ergun, Sewry, Caroline, Hamilton, Susan L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2017
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5376670/
https://ncbi.nlm.nih.gov/pubmed/28337975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms14659
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