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Article

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

Journal of muscle research and cell motility - 1 Dec 2024

Gamberucci Alessandra, Nanni Claudio, Pierantozzi Enrico, Serano Matteo, Protasi Feliciano, Rossi Daniela, Sorrentino Vincenzo

Abstract excerpt

Tubular aggregate myopathy (TAM) is a rare myopathy characterized by muscle weakness and myalgia. Muscle fibers from TAM patients show characteristic accumulation of membrane tubules that contain proteins from the sarcoplasmic reticulum (SR). Gain-of-function mutations in STIM1 and ORAI1, the key proteins participating in the Store-Operated Ca2+ Entry (SOCE) mechanism, were identified in patients with TAM....

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Source

Open in PubMed Open full text

Identifiers

PMID: 39126637
DOI: 10.1007/s10974-024-09681-9
PMCID: PMC11554935

Genes

CASQ1
ORAI1
STIM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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TAM-associated CASQ1 mutants diminish intracellular Ca2+ content and interfere with regulation of SOCE.PMID 39126637Read ↗

Store-operated calcium entry: From physiology to tubular aggregate myopathy.Semantic proximity Read ↗

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

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

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

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.Semantic proximity Read ↗

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

Calcium Dyshomeostasis in Tubular Aggregate Myopathy.Semantic proximity Read ↗

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

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in miceSemantic proximity Read ↗

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

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