Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome
Abstract Calcium (Ca 2+) is a key regulator for a large number of cellular functions in all
kinds of cells, and small disturbances of Ca 2+ homeostasis can severely compromise
normal physiology in various tissues and organs. A major mechanism controlling Ca 2+
homeostasis is store-operated Ca 2+ entry (SOCE), which relies on the concerted action of
the reticular Ca 2+ sensor STIM1 and the plasma membrane Ca 2+ channel ORAI1. Gain-of-
function mutations in the respective genes induce excessive Ca 2+ entry, and cause tubular …
kinds of cells, and small disturbances of Ca 2+ homeostasis can severely compromise
normal physiology in various tissues and organs. A major mechanism controlling Ca 2+
homeostasis is store-operated Ca 2+ entry (SOCE), which relies on the concerted action of
the reticular Ca 2+ sensor STIM1 and the plasma membrane Ca 2+ channel ORAI1. Gain-of-
function mutations in the respective genes induce excessive Ca 2+ entry, and cause tubular …