Title : STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39.

Pub. Date : 2022 May 18

PMID : 35636153






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 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. Calcium ORAI calcium release-activated calcium modulator 1 Homo sapiens