Article
Three-dimensional perspective on ryanodine receptor mutations causing skeletal and cardiac muscle-related diseases.
Current opinion in pharmacology - 1 Feb 2023
Iyer Kavita A, Barnakov Vadim, Samsó Montserrat
Abstract excerpt
Mutations in RyR alter the cell's Ca2+ homeostasis and can cause serious health problems for which few effective therapies are available. Until recently, there was little structural context for the hundreds of mutations linked to muscular disorders reported for this large channel. Growing knowledge of the three-dimensional structure of RyR starts to illustrate the fine control of Ca2+ release. Current efforts...
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