Malignant hyperthermia mutation sites in the Leu(2442)–Pro(2477) (DP4) region of RyR1 (ryanodine receptor 1) are clustered in a structurally and functionally definable area

To explain the mechanism of pathogenesis of channel disorder in MH (malignant hyperthermia), we have proposed a model in which tight interactions between the N-terminal and central domains of RyR1 (ryanodine receptor 1) stabilize the closed state of the channel, but mutation in these domains weakens...

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Autori principali: Bannister, Mark L., Hamada, Tomoyo, Murayama, Takashi, Harvey, Peta J., Casarotto, Marco G., Dulhunty, Angela F., Ikemoto, Noriaki
Natura: Artigo
Lingua:Inglês
Pubblicazione: Portland Press Ltd. 2006
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698659/
https://ncbi.nlm.nih.gov/pubmed/16958617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20060902
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