Article
STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39.
Cell calcium - 1 Jul 2022
Riva Beatrice, Pessolano Emanuela, Quaglia Edoardo, Cordero-Sanchez Celia, Bhela Irene P, Topf Ana, Serafini Marta, Cox Daniel, Harris Elizabeth, Garibaldi Matteo, Barresi Rita, Pirali Tracey, Genazzani Armando A
Abstract excerpt
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 (i.e 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...
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