Nature Communications (Mar 2017)
A chemical chaperone improves muscle function in mice with a RyR1 mutation
- 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
Affiliations
- Chang Seok Lee
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Amy D. Hanna
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Hui Wang
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Adan Dagnino-Acosta
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Aditya D. Joshi
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Mark Knoblauch
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Yan Xia
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Dimitra K. Georgiou
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Jianjun Xu
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Cheng Long
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Hisayuki Amano
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Corey Reynolds
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Keke Dong
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- John C. Martin
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- William R. Lagor
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- George G. Rodney
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Ergun Sahin
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- Caroline Sewry
- Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital
- Susan L. Hamilton
- Department of Molecular Physiology and Biophysics, Baylor College of Medicine
- DOI
- https://doi.org/10.1038/ncomms14659
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 15
Abstract
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.
