Associated Papers
STIM1 Reduction Prevents Tubular Aggregate Formation and Compromises Muscle Performance in Ageing Mice.
Pérez-Guàrdia L et al.
Journal of Cachexia, Sarcopenia and Muscle, 2025
Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.
Kamath ND et al.
Genetics, 2025
Voluntary Wheel Running Mitigates Disease in an Orai1 Gain-of-Function Mouse Model of Tubular Aggregate Myopathy.
O'Connor TN et al.
Cells, 2025
CRAC channels and patho-physiology of peripheral organ systems.
Bhardwaj R et al.
Biochemical Society Transactions, 2025
STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome.
Lafabrie E et al.
Journal of Medical Genetics, 2025
Commentary to An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease (Zhao et al., EMBO Journal 2024) and A gain-of-function mutation in the Ca2+ channel ORAI1 causes Stormorken syndrome with tubular aggregates in mice (Pérez-Guàrdia et al., Cells 2024).
Böhm J
Cell Calcium, 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
A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice.
Pérez-Guàrdia L et al.
Cells, 2024
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
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.
Silva-Rojas R et al.
Jci Insight, 2024
Antioxidants restore store-operated Ca2+ entry in patient-iPSC-derived myotubes with tubular aggregate myopathy-associated Ile484ArgfsX21 STIM1 mutation via upregulation of binding immunoglobulin protein.
Sakai-Takemura F et al.
Faseb Bioadvances, 2023
An apical Phe-His pair defines the Orai1-coupling site and its occlusion within STIM1.
Zhou Y et al.
Nature Communications, 2023
Voluntary wheel running mitigates disease in an Orai1 gain-of-function mouse model of tubular aggregate myopathy.
O'Connor TN et al.
Biorxiv : the Preprint Server for Biology, 2023
Mediator 1 ablation induces enamel-to-hair lineage conversion in mice through enhancer dynamics.
Thaler R et al.
Communications Biology, 2023
The SOAR of STIM1 interacts with plasma membrane lipids to form ER-PM contact sites.
Cohen HA et al.
Cell Reports, 2023
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.
Gamage TH et al.
Science Signaling, 2023
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
Rossi D et al.
The Journal of General Physiology, 2022
CIC-39Na reverses the thrombocytopenia that characterizes tubular aggregate myopathy.
Cordero-Sanchez C et al.
Blood Advances, 2022
Mapping interactions between the CRAC activation domain and CC1 regulating the activity of the ER Ca2+ sensor STIM1.
Shrestha N et al.
The Journal of Biological Chemistry, 2022
Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.
Silva-Rojas R et al.
International Journal of Molecular Sciences, 2022
Combination of thrombocytopenia and hypocalcemia may indicate the possibility of Stormorken Syndrome with STIM1 mutation.
Wang CH et al.
Pediatrics and Neonatology, 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
Alteration of STIM1/Orai1-Mediated SOCE in Skeletal Muscle: Impact in Genetic Muscle Diseases and Beyond.
Conte E et al.
Cells, 2021
Defects in the STIM1 SOARα2 domain affect multiple steps in the CRAC channel activation cascade.
Höglinger C et al.
Cellular and Molecular Life Sciences : Cmls, 2021
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R et al.
Genes, 2021
Pathological Mechanism of a Constitutively Active Form of Stromal Interaction Molecule 1 in Skeletal Muscle.
Park JH et al.
Biomolecules, 2021
Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure.
Silva-Rojas R et al.
Cells, 2021
Calcium entry units (CEUs): perspectives in skeletal muscle function and disease.
Protasi F et al.
Journal of Muscle Research and Cell Motility, 2021
The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis.
Burgos M et al.
Journal of Cell Science, 2021
Interhelical interactions within the STIM1 CC1 domain modulate CRAC channel activation.
Rathner P et al.
Nature Chemical Biology, 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
Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome.
Peche GA et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020