Associated Papers
Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.
Kamath ND et al.
Genetics, 2025
Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.
Kamath ND et al.
Biorxiv : the Preprint Server for Biology, 2025
Essential role of N-terminal SAM regions in STIM1 multimerization and function.
Sallinger M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.
de la Fuente-Munoz E et al.
Frontiers in Immunology, 2022
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
Ticci C et al.
Muscle & Nerve, 2021
Alteration of STIM1/Orai1-Mediated SOCE in Skeletal Muscle: Impact in Genetic Muscle Diseases and Beyond.
Conte E et al.
Cells, 2021
Pathological Mechanism of a Constitutively Active Form of Stromal Interaction Molecule 1 in Skeletal Muscle.
Park JH et al.
Biomolecules, 2021
The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis.
Burgos M et al.
Journal of Cell Science, 2021
Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report.
Jiang LJ et al.
Frontiers in Neurology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Luminal STIM1 Mutants that Cause Tubular Aggregate Myopathy Promote Autophagic Processes.
Sallinger M et al.
International Journal of Molecular Sciences, 2020
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G et al.
Human Mutation, 2020
STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases.
Silva-Rojas R et al.
Frontiers in Physiology, 2020
A muscular hypotonia-associated STIM1 mutant at R429 induces abnormalities in intracellular Ca2+ movement and extracellular Ca2+ entry in skeletal muscle.
Choi JH et al.
Scientific Reports, 2019
Stormorken Syndrome: A Rare Cause of Myopathy With Tubular Aggregates and Dystrophic Features.
Li A et al.
Journal of Child Neurology, 2019
[Tubular aggregate myopathy and Stormorken syndrome].
Böhm J et al.
Medecine Sciences : M/s, 2018
Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature.
Borsani O et al.
Frontiers in Neurology, 2018
Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
Lee JM et al.
International Journal of Molecular Sciences, 2016
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.
Tasca G et al.
Neuromuscular Disorders : Nmd, 2015
Diseases caused by mutations in ORAI1 and STIM1.
Lacruz RS et al.
Annals of the New York Academy of Sciences, 2015
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
Böhm J et al.
Journal of Medical Genetics, 2014
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Morin G et al.
Human Mutation, 2014
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
Hedberg C et al.
Journal of Neurology, 2014
A dominant STIM1 mutation causes Stormorken syndrome.
Misceo D et al.
Human Mutation, 2014
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
Nesin V et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
Böhm J et al.
American Journal of Human Genetics, 2013
Stormorken syndrome caused by STIM1 mutation: A case report and literature review.
Sun W et al.
Medicine International, 0