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
CRAC channels and patho-physiology of peripheral organ systems.
Bhardwaj R et al.
Biochemical Society Transactions, 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
Genetic defects are common in myopathies with tubular aggregates.
Gang Q et al.
Annals of Clinical and Translational Neurology, 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
Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy.
Conte E et al.
Frontiers in Cell and Developmental Biology, 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
Stormorken syndrome caused by STIM1 mutation: A case report and literature review.
Sun W et al.
Medicine International, 0
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