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Article

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

International journal of molecular sciences - 23 Jun 2022

Silva-Rojas Roberto, Pérez-Guàrdia Laura, Lafabrie Emma, Moulaert David, Laporte Jocelyn, Böhm Johann

Abstract excerpt

Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) form a clinical continuum associating progressive muscle weakness with additional multi-systemic anomalies of the bones, skin, spleen, and platelets. TAM/STRMK arises from excessive extracellular Ca2+ entry due to gain-of-function mutations in the Ca2+ sensor STIM1 or the Ca2+ channel ORAI1. Currently, no treatment is available. Here we assessed the...

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Blood Platelet Disorders
Dyslexia
Erythrocytes, Abnormal
Ichthyosis
Migraine Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myopathies, Structural, Congenital

Stromal Interaction Molecule 1

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Identifiers

PMID: 35805973
DOI: 10.3390/ijms23136968
PMCID: PMC9266658

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.PMID 35805973Read ↗

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

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

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

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate MyopathySemantic proximity Read ↗

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Functional analyses of <i>STIM1</i> mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

Circulating MYOM3 fragments reflect disease severity and therapeutic efficacy in tubular aggregate myopathy and Stormorken syndrome.Semantic proximity Read ↗

STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror DiseasesSemantic proximity Read ↗

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

Defects in skeletal myotubes caused by STIM1 I115F that lead to tubular aggregate myopathy and Stormorken syndrome, and their restoration at the cellular level.Semantic proximity Read ↗

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