A central core disease mutation in the Ca(2+)-binding site of skeletal muscle ryanodine receptor impairs single-channel regulation

Cryoelectron microscopy and mutational analyses have shown that type 1 ryanodine receptor (RyR1) amino acid residues RyR1-E3893, -E3967, and -T5001 are critical for Ca(2+)-mediated activation of skeletal muscle Ca(2+) release channel. De novo missense mutation RyR1-Q3970K in the secondary binding sp...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Am J Physiol Cell Physiol
Egile Nagusiak: Chirasani, Venkat R., Xu, Le, Addis, Hannah G., Pasek, Daniel A., Dokholyan, Nikolay V., Meissner, Gerhard, Yamaguchi, Naohiro
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Physiological Society 2019
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732417/
https://ncbi.nlm.nih.gov/pubmed/31166712
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajpcell.00052.2019
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