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
ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.
Silva-Rojas R et al.
Jci Insight, 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
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
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
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
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
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
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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
Myopathy in the York Platelet Syndrome: An Underrecognized Complication.
Roman J et al.
Case Reports in Pathology, 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
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Bone WP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.
Tasca G et al.
Neuromuscular Disorders : Nmd, 2015
Diseases caused by mutations in ORAI1 and STIM1.
Lacruz RS et al.
Annals of the New York Academy of Sciences, 2015
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
Markello T et al.
Molecular Genetics and Metabolism, 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
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
Hedberg C et al.
Journal of Neurology, 2014
Stormorken syndrome caused by STIM1 mutation: A case report and literature review.
Sun W et al.
Medicine International, 0