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
Sign Up to like & getrecommendations! Published in 2023 at "Science Signaling"
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
Stormorken Syndrome: A Rare Cause of Myopathy With Tubular Aggregates and Dystrophic Features
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DOI: 10.1177/0883073819829389
Abstract: Stormorken syndrome is a rare genetic disorder (MIM 185070) first reported in 1983 with thrombocytopenia, muscle weakness, asplenia, and miosis caused by a mutation of the stromal interaction molecule 1 (STIM1) gene.1 The muscle weakness… read more here.
Keywords: myopathy tubular; tubular aggregates; syndrome rare; muscle ... See more keywords
Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.522513
Abstract: Objective: To identify the gene mutation of Stormorken syndrome and review the published Stromal Interaction Molecule 1 (STIM1) mutation phenotype. Methods: We described the clinical and molecular aspects of a Chinese female with Stormorken syndrome… read more here.
Keywords: novel stim1; syndrome caused; stormorken syndrome; caused novel ... See more keywords