Population
HEK-293 cells transfected with full-length rabbit Ca2+ release channel cDNA containing Malignant…
Comparison
Expression of MH or CCD mutant RyR1 vs HEK-293 cells expressing wild type RyR1
Design
Preclinical
Authors
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Animal data support leaky RyR1 phenotype in MH/CCD; leaves open human translation and therapeutic targeting.
MH and CCD mutations in RyR1 lead to increased resting Ca2+ and reduced maximal caffeine-induced Ca2+ release, suggesting a 'leaky' channel phenotype with compensatory increases in ER Ca2+ storage capacity.
Tong et al. (1999) studied this question.
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