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Ryanodine receptor 1 and associated pathologies

Julien Fauré 1 Joël Lunardi 1 Nicole Monnier 1 Isabelle Marty 2, *
* Corresponding author
1 INSERM U836, équipe 4, Muscles et pathologies
GIN - Grenoble Institut des Neurosciences, Service Biochimie et Génétique Moléculaire
2 INSERM U836, équipe 4, Muscles et pathologies
GIN - Grenoble Institut des Neurosciences
Abstract : In skeletal muscle a rise in the cytosolic calcium concentration is the first trigger able to initiate the contraction of the sarcomere. Intracellular calcium levels are tightly controlled by channels and pumps, and it is not surprising that many inherited skeletal muscle disorders arise from mutations altering the players regulating calcium ions concentration (Betzenhauser et al., 2010). In this chapter, we will focus on the pathologies linked to the sarcoplasmic reticulum calcium channel-RyR1 mutations.
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Julien Fauré, Joël Lunardi, Nicole Monnier, Isabelle Marty. Ryanodine receptor 1 and associated pathologies. Weiss, N. Koschak, A. Pathologies of calcium channels, Springer, pp.167-187, 2014, ⟨10.1007/978-3-642-40282-1_9⟩. ⟨inserm-00954592⟩

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