Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle
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Barrientos, Genaro C
Feng, Wei
Truong, Kim
Matthaei, Klaus
Yang, Tianzhong
Allen, Paul D
Lopez, Jose R
Pessah, Issac N
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American Society for Biochemistry and Molecular Biology Inc
Abstract
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
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Journal of Biological Chemistry
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Open Access