A chemical chaperone improves muscle function in mice with a RyR1 mutation-Reference-Cited by-同舟云学术

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

Published:2017-03-24 Issue:1 Volume:8 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

Lee Chang Seok,Hanna Amy D.,Wang Hui^ORCID,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.

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/ncomms14659.pdf

Reference62 articles.

1. Maggi, L. et al. Congenital myopathies – clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul. Disord. 23, 195–205 (2013).

2. Lillis, S., Abbs, S., Mueller, C. R., Muntoni, F. & Jungbluth, H. Clinical utility gene card for: Central core disease. Eur. J. Hum. Genet. 20, http://dx.doi.org/10.1038/ejhg.2011.179 (2012).

3. Avila, G. & Dirksen, R. T. Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor. J. Gen. Physiol. 118, 277–290 (2001).

4. Loy, R. E. et al. Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum. J. Gen. Physiol. 137, 43–57 (2011).

5. Durham, W. J. et al. RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. Cell 133, 53–65 (2008).

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