Gene Dose Influences Cellular and Calcium Channel Dysregulation in Heterozygous and Homozygous T4826I-RYR1 Malignant Hyperthermia-susceptible Muscle

Malignant hyperthermia susceptibility (MHS) is primarily conferred by mutations within ryanodine receptor type 1 (RYR1). Here we address how the MHS mutation T4826I within the S4-S5 linker influences excitation-contraction coupling and resting myoplasmic Ca(2+) concentration ([Ca(2+)](rest)) in flex...

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Detalhes bibliográficos
Main Authors: Barrientos, Genaro C., Feng, Wei, Truong, Kim, Matthaei, Klaus I., Yang, Tianzhong, Allen, Paul D., Lopez, José R., Pessah, Isaac N.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2012
Assuntos:
Membrane Biology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3267780/
https://ncbi.nlm.nih.gov/pubmed/22139840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.307926
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