Article
Insights into channel modulation mechanism of RYR1 mutants using Ca2+ imaging and molecular dynamics.
The Journal of general physiology - 6 Jan 2020
Yamazawa Toshiko, Ogawa Haruo, Murayama Takashi, Yamaguchi Maki, Oyamada Hideto, Suzuki Junji, Kurebayashi Nagomi, Kanemaru Kazunori, Oguchi Katsuji, Sakurai Takashi, Iino Masamitsu
Abstract excerpt
Type 1 ryanodine receptor (RYR1) is a Ca2+ release channel in the sarcoplasmic reticulum in skeletal muscle and plays an important role in excitation-contraction coupling. Mutations in the RYR1 gene cause severe muscle diseases such as malignant hyperthermia (MH), which is a disorder of CICR via RYR1. Thus far, >300 mutations in RYR1 have been reported in patients with MH. However, owing to a lack of...
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