Associated Papers
STIM1-containing contact sites promote direct calcium flux from the endoplasmic reticulum to mitochondria.
Orantos-Aguilera Y et al.
The Embo Journal, 2026
Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.
Kamath ND et al.
Genetics, 2025
A novel variant in the STIM1 gene leading to combined immunodeficiency and congenital myopathy.
Taherkhani A et al.
Immunologic Research, 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
An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease.
Zhao N et al.
The Embo Journal, 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
Mammalian Genomic Manipulation with Orthogonal Bxb1 DNA Recombinase Sites for the Functional Characterization of Protein Variants.
Roelle SM et al.
Acs Synthetic Biology, 2023
Store-operated calcium entry: From physiology to tubular aggregate myopathy.
Protasi F et al.
Current Opinion in Pharmacology, 2023
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
Calsequestrin 1 Is an Active Partner of Stromal Interaction Molecule 2 in Skeletal Muscle.
Jeong SY et al.
Cells, 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
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.
Salvi A et al.
Clinical Genetics, 2021
STIM1-mediated calcium influx controls antifungal immunity and the metabolic function of non-pathogenic Th17 cells.
Kahlfuss S et al.
Embo Molecular Medicine, 2020
STIM1 controls calcineurin/Akt/mTOR/NFATC2-mediated osteoclastogenesis induced by RANKL/M-CSF.
Huang Y et al.
Experimental and Therapeutic Medicine, 2020
A novel frame shift mutation in STIM1 gene causing primary immunodeficiency.
Derakhshan D et al.
Intractable & Rare Diseases Research, 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
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.
Vignesh P et al.
Frontiers in Immunology, 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
A novel STIM1-Orai1 gating interface essential for CRAC channel activation.
Butorac C et al.
Cell Calcium, 2019
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype.
Rice L et al.
Journal of Clinical Immunology, 2019
Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease.
Michelucci A et al.
Cell Calcium, 2018
The 2β Splice Variation Alters the Structure and Function of the Stromal Interaction Molecule Coiled-Coil Domains.
Chung S et al.
International Journal of Molecular Sciences, 2018
Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies.
Nagy M et al.
Haematologica, 2018
A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state.
Fahrner M et al.
Nature Communications, 2018
The STIM-Orai coupling interface and gating of the Orai1 channel.
Zhou Y et al.
Cell Calcium, 2017
Store-Operated Ca2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism.
Maus M et al.
Cell Metabolism, 2017
Molecular Determinants for STIM1 Activation During Store- Operated Ca2+ Entry.
Ma G et al.
Current Molecular Medicine, 2017
The STIM-Orai Pathway: Conformational Coupling Between STIM and Orai in the Activation of Store-Operated Ca2+ Entry.
Nwokonko RM et al.
Advances in Experimental Medicine and Biology, 2017
Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils.
Elling R et al.
The Journal of Allergy and Clinical Immunology, 2016
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.
Parry DA et al.
The Journal of Allergy and Clinical Immunology, 2016
Cooperative Binding of Stromal Interaction Molecule 1 (STIM1) to the N and C Termini of Calcium Release-activated Calcium Modulator 1 (Orai1).
Palty R et al.
The Journal of Biological Chemistry, 2016
Diseases caused by mutations in ORAI1 and STIM1.
Lacruz RS et al.
Annals of the New York Academy of Sciences, 2015
STIM1 dimers undergo unimolecular coupling to activate Orai1 channels.
Zhou Y et al.
Nature Communications, 2015