STIM1 Reduction Prevents Tubular Aggregate Formation and Compromises Muscle Performance in Ageing Mice.

DHHC21 is a STIM1 protein S-acyltransferase that modulates immune function in vivo.

Store-operated calcium entry-based targets for novel cancer therapeutic development.

Voluntary Wheel Running Mitigates Disease in an Orai1 Gain-of-Function Mouse Model of Tubular Aggregate Myopathy.

Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.

STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome.

Congenital tubular aggregates myopathy associated with central nervous system involvement: description of a case.

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).

A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice.

An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease.

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy.

Constitutive, Muscle-Specific Orai1 Knockout Results in the Incomplete Assembly of Ca2+ Entry Units and a Reduction in the Age-Dependent Formation of Tubular Aggregates.

TAM-associated CASQ1 mutants diminish intracellular Ca2+ content and interfere with regulation of SOCE.

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.

STIM1: A new player in nuclear dynamics? Lessons learnt from tubular aggregate myopathy.

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.

The Structural-Functional Crosstalk of the Calsequestrin System: Insights and Pathological Implications.

Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.

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.

Tubular aggregate myopathy causing progressive fatiguable weakness.

Muscle magnetic resonance characterization of STIM1 tubular aggregate myopathy using unsupervised learning.

Tubular aggregate myopathy mutant unveils novel activation and inactivation mechanisms of Orai1.

A pathogenic human Orai1 mutation unmasks STIM1-independent rapid inactivation of Orai1 channels.

Stormorken syndrome caused by STIM1 mutation: A case report and literature review.

Store-operated calcium entry: From physiology to tubular aggregate myopathy.

Huntingtin regulates calcium fluxes in skeletal muscle.

Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.

Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.

The TAM-associated STIM1I484R mutation increases ORAI1 channel function due to a reduced STIM1 inactivation break and an absence of microtubule trapping.

Chronic inhibition of the mitochondrial ATP synthase in skeletal muscle triggers sarcoplasmic reticulum distress and tubular aggregates.

CIC-39Na reverses the thrombocytopenia that characterizes tubular aggregate myopathy.

Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.

STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39.

Hereditary myopathies associated with hematological abnormalities.

Alteration of STIM1/Orai1-Mediated SOCE in Skeletal Muscle: Impact in Genetic Muscle Diseases and Beyond.

Stormorken Syndrome Caused by a Novel STIM1 Mutation: A Case Report.

Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure.

Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle.

Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy.

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases.

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome.

Clinical and muscle MRI features in a family with tubular aggregate myopathy and novel STIM1 mutation.

Calcium entry units (CEUs): perspectives in skeletal muscle function and disease.

Luminal STIM1 Mutants that Cause Tubular Aggregate Myopathy Promote Autophagic Processes.

Chronic Thrombocytopenia as the Initial Manifestation of STIM1-Related Disorders.

Cylindrical spirals in two families: Clinical and genetic investigations.

Sequential activation of STIM1 links Ca2+ with luminal domain unfolding.

A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy.

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.

Sweat retention anhidrosis associated with tubular aggregate myopathy.

CRAC channels and disease - From human CRAC channelopathies and animal models to novel drugs.

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice.

[Tubular aggregate myopathy and Stormorken syndrome].

Role of STIM1/ORAI1-mediated store-operated Ca2+ entry in skeletal muscle physiology and disease.

Disturbed Ca2+ Homeostasis in Muscle-Wasting Disorders.

ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain.

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature.

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome.

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Molecular Determinants for STIM1 Activation During Store- Operated Ca2+ Entry.

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures.

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.

Calcium Dyshomeostasis in Tubular Aggregate Myopathy.

Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.

[Tubular aggregate myopathy: report of a case].

Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1.

Diseases caused by mutations in ORAI1 and STIM1.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.

Stormorken syndrome or York platelet syndrome: A clinician's dilemma.