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
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.
Silva-Rojas R et al.
Jci Insight, 2024
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
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
Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report.
Jiang LJ et al.
Frontiers in Neurology, 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
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.
Chennen K et al.
Plos One, 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
A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy.
Cordero-Sanchez C et al.
Disease Models & Mechanisms, 2019
Sequential activation of STIM1 links Ca2+ with luminal domain unfolding.
Schober R et al.
Science Signaling, 2019
Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease.
Michelucci A et al.
Cell Calcium, 2018
[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
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
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1.
Okuma H et al.
Neurology. Genetics, 2016
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
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
Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome.
Silva-Hernández L et al.
Neurologia, 0