A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome–causing R304W mutation
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DOI: 10.1126/scisignal.add0509
Abstract: Stormorken syndrome is a multiorgan hereditary disease caused by dysfunction of the endoplasmic reticulum (ER) Ca2+ sensor protein STIM1, which forms the Ca2+ release–activated Ca2+ (CRAC) channel together with the plasma membrane channel Orai1. ER… read more here.
Keywords: deletion; stormorken syndrome; r304w; mutation ... See more keywords