Title : Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.

Pub. Date : 2009

PMID : 19685112






2 Functional Relationships(s)
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1 The half-maximal activation concentrations (EC(50)) of caffeine and 4CmC for HEK-293 cells transfected with the p.R2508C mutation were 1.86 +/- 0.23 mM and 73.14 +/- 19.44 microM, while those for wild-type RYR1 were 2.62 +/- 0.23 mM and 179.31 +/- 35.23 microM, respectively. Caffeine ryanodine receptor 1 Homo sapiens
2 CONCLUSION: We demonstrated that the transfected RYR1 mutant was more sensitive to caffeine and 4CmC than wildtype RYR1. Caffeine ryanodine receptor 1 Homo sapiens