Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.
Elbaz M. et al, (2019), Hum Mol Genet, 28, 2987 - 2999
Impaired Ligand Regulation of Native RyR2 Channels in the Catechol-aminergic Polymorphic Ventricular Tachycardia Mutation, RyR2-V2475F(+/-)
Wilson AD. et al, (2019), BIOPHYSICAL JOURNAL, 116, 381A - 381A
Simvastatin activates single skeletal RyR1 channels but exerts more complex regulation of the cardiac RyR2 isoform.
Venturi E. et al, (2018), Br J Pharmacol, 175, 938 - 952
Atorvastatin Activates Skeletal RyR1 Channels: Towards Reducing Statin Side-Effects
Lindsay C. et al, (2018), BIOPHYSICAL JOURNAL, 114, 470A - 470A
Statins Bind to Cardiac Ryanodine Receptor (RyR2) Channels to Alter Opening Frequency
Wilson AD. et al, (2018), BIOPHYSICAL JOURNAL, 114, 621A - 622A
Dampened activity of ryanodine receptor channels in mutant skeletal muscle lacking TRIC-A.
El-Ajouz S. et al, (2017), J Physiol, 595, 4769 - 4784