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Article

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

American journal of physiology. Cell physiology - 1 May 2026

Jeong Seung Yeon, Lim Huijin, Hong Semin, Lee Eun Hui

Abstract excerpt

A genetic mutation in stromal interaction molecule 1 (STIM1) at I115 (I115F) causes tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK), which are multisystemic disorders characterized by miosis, thrombocytopenia, asplenia, and congenital skeletal muscle weakness. The main cause of this skeletal muscle weakness is excess store-operated Ca2+ entry (SOCE) resulting from the constitutively active I115F...

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Share to Blood Platelet Disorders
Share to Erythrocytes, Abnormal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myopathies, Structural, Congenital

Share to ORAI1 Protein

Share to Sarcoplasmic Reticulum Calcium-Transporting ATPases

Share to Stromal Interaction Molecule 1

Share to TRPC Cation Channels

Share to TRPC6 Cation Channel

Source

Identifiers

PMID: 41984033
DOI: 10.1152/ajpcell.00024.2026

Genes

STIM1
TRPC6
ORAI1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Defects in skeletal myotubes caused by STIM1 I115F that lead to tubular aggregate myopathy and Stormorken syndrome, and their restoration at the cellular level.PMID 41984033Read ↗

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 ↗

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

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

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.Semantic proximity Read ↗

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

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

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