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.

doi:10.1126/scisignal.add0509

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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.

Science signaling - 7 Feb 2023

Gamage Thilini H, Grabmayr Herwig, Horvath Ferdinand, Fahrner Marc, Misceo Doriana, Louch William Edward, Gunnes Gjermund, Pullisaar Helen, Reseland Janne Elin, Lyngstadaas Staale Petter, Holmgren Asbjørn, Amundsen Silja S, Rathner Petr, Cerofolini Linda, Ravera Enrico, Krobath Heinrich, Luchinat Claudio, Renger Thomas, Müller Norbert, Romanin Christoph, Frengen Eirik

Abstract excerpt

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 Ca2+ store depletion activates STIM1 by releasing the intramolecular "clamp" formed between the coiled coil 1 (CC1) and CC3 domains of the protein, enabling the C...

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PMID: 36749824
DOI: 10.1126/scisignal.add0509

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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.PMID 36749824Read ↗

Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken SyndromeSemantic proximity Read ↗

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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.Semantic proximity Read ↗

A Dominant STIM1 Mutation Causes Stormorken SyndromeSemantic proximity Read ↗

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STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror DiseasesSemantic proximity Read ↗

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in miceSemantic proximity Read ↗

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