[HTML][HTML] STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39
B Riva, E Pessolano, E Quaglia, C Cordero-Sanchez… - Cell Calcium, 2022 - Elsevier
Gain-of-function mutations on STIM1 and ORAI1 genes are responsible for an increased
store-operated calcium entry, and underlie the characteristic symptoms of three overlapping
ultra-rare genetic disorders (ie tubular aggregate myopathy, Stormorken syndrome, York
platelet syndrome) that can be grouped as tubular aggregate myopathies. These mutations
lead to a wide spectrum of defects, which usually include muscle weakness and cramps.
Negative modulators of store-operated Ca 2+-entry targeting wild-type STIM1 and ORAI1 …
store-operated calcium entry, and underlie the characteristic symptoms of three overlapping
ultra-rare genetic disorders (ie tubular aggregate myopathy, Stormorken syndrome, York
platelet syndrome) that can be grouped as tubular aggregate myopathies. These mutations
lead to a wide spectrum of defects, which usually include muscle weakness and cramps.
Negative modulators of store-operated Ca 2+-entry targeting wild-type STIM1 and ORAI1 …