Article
Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region.
PloS one - 1 Jan 2015
Murayama Takashi, Kurebayashi Nagomi, Yamazawa Toshiko, Oyamada Hideto, Suzuki Junji, Kanemaru Kazunori, Oguchi Katsuji, Iino Masamitsu, Sakurai Takashi
Abstract excerpt
The type 1 ryanodine receptor (RyR1) is a Ca2+ release channel in the sarcoplasmic reticulum of skeletal muscle and is mutated in several diseases, including malignant hyperthermia (MH) and central core disease (CCD). Most MH and CCD mutations cause accelerated Ca2+ release, resulting in abnormal Ca2+ homeostasis in skeletal muscle. However, how specific mutations affect the channel to produce different...
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