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
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
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
The D84G mutation in STIM1 causes nuclear envelope dysfunction and myopathy in mice.
Bryson V et al.
The Journal of Clinical Investigation, 2024
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
The D84G mutation in STIM1 causes nuclear envelope dysfunction and myopathy in mice.
Bryson V et al.
Biorxiv : the Preprint Server for Biology, 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
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
Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure.
Silva-Rojas R et al.
Cells, 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
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
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Morin G et al.
Human Mutation, 2020