A chemical chaperone improves muscle function in mice with a RyR1 mutation
Mutations in the RyR1 channel cause core myopathies. Here the authors show that ER stress and the unfolded protein response underlie the pathology caused by a common RyR1 channel mutation, and show that treatment with a chemical chaperone restores muscle function in mice.
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Nature Portfolio
2017
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oai:doaj.org-article:8a7faf752203416684267602ebe0758b2021-12-02T15:38:34ZA chemical chaperone improves muscle function in mice with a RyR1 mutation10.1038/ncomms146592041-1723https://doaj.org/article/8a7faf752203416684267602ebe0758b2017-03-01T00:00:00Zhttps://doi.org/10.1038/ncomms14659https://doaj.org/toc/2041-1723Mutations in the RyR1 channel cause core myopathies. Here the authors show that ER stress and the unfolded protein response underlie the pathology caused by a common RyR1 channel mutation, and show that treatment with a chemical chaperone restores muscle function in mice.Chang Seok LeeAmy D. HannaHui WangAdan Dagnino-AcostaAditya D. JoshiMark KnoblauchYan XiaDimitra K. GeorgiouJianjun XuCheng LongHisayuki AmanoCorey ReynoldsKeke DongJohn C. MartinWilliam R. LagorGeorge G. RodneyErgun SahinCaroline SewrySusan L. HamiltonNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-15 (2017) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Chang Seok Lee Amy D. Hanna Hui Wang Adan Dagnino-Acosta Aditya D. Joshi Mark Knoblauch Yan Xia Dimitra K. Georgiou Jianjun Xu Cheng Long Hisayuki Amano Corey Reynolds Keke Dong John C. Martin William R. Lagor George G. Rodney Ergun Sahin Caroline Sewry Susan L. Hamilton A chemical chaperone improves muscle function in mice with a RyR1 mutation |
| description |
Mutations in the RyR1 channel cause core myopathies. Here the authors show that ER stress and the unfolded protein response underlie the pathology caused by a common RyR1 channel mutation, and show that treatment with a chemical chaperone restores muscle function in mice. |
| format |
article |
| author |
Chang Seok Lee Amy D. Hanna Hui Wang Adan Dagnino-Acosta Aditya D. Joshi Mark Knoblauch Yan Xia Dimitra K. Georgiou Jianjun Xu Cheng Long Hisayuki Amano Corey Reynolds Keke Dong John C. Martin William R. Lagor George G. Rodney Ergun Sahin Caroline Sewry Susan L. Hamilton |
| author_facet |
Chang Seok Lee Amy D. Hanna Hui Wang Adan Dagnino-Acosta Aditya D. Joshi Mark Knoblauch Yan Xia Dimitra K. Georgiou Jianjun Xu Cheng Long Hisayuki Amano Corey Reynolds Keke Dong John C. Martin William R. Lagor George G. Rodney Ergun Sahin Caroline Sewry Susan L. Hamilton |
| author_sort |
Chang Seok Lee |
| title |
A chemical chaperone improves muscle function in mice with a RyR1 mutation |
| title_short |
A chemical chaperone improves muscle function in mice with a RyR1 mutation |
| title_full |
A chemical chaperone improves muscle function in mice with a RyR1 mutation |
| title_fullStr |
A chemical chaperone improves muscle function in mice with a RyR1 mutation |
| title_full_unstemmed |
A chemical chaperone improves muscle function in mice with a RyR1 mutation |
| title_sort |
chemical chaperone improves muscle function in mice with a ryr1 mutation |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/8a7faf752203416684267602ebe0758b |
| work_keys_str_mv |
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