Stormorken Syndrome Latest Advances

Find the Latest Research About Stormorken Syndrome

Last Updated: 04/28/2026

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Found 58 publications

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

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

Journal: American journal of physiology. Cell physiology
Published: April 15, 2026

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.

Journal: Cells
Published: February 12, 2026

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

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

Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025

Engineering of genetically encoded programmable calcium channel inhibitory binders.

Engineering of genetically encoded programmable calcium channel inhibitory binders.

Journal: Nature communications
Published: September 29, 2025

The spectrum of neuromuscular diseases with tubular aggregates.

The spectrum of neuromuscular diseases with tubular aggregates.

Journal: Neuromuscular disorders : NMD
Published: June 24, 2025

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

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

Journal: Journal of cachexia, sarcopenia and muscle
Published: June 23, 2025

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

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

Journal: Genetics
Published: May 24, 2025

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

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

Journal: The Journal of pharmacology and experimental therapeutics
Published: March 27, 2025

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

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

Journal: bioRxiv : the preprint server for biology
Published: February 03, 2025

Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome.

Clinical variability in STIM1 variant c.262A>G associated with Stormorken syndrome.

Journal: Neurologia
Published: January 27, 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).

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).

Journal: Cell calcium
Published: January 14, 2025

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

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

Journal: Cells
Published: August 03, 2024
Showing 1-12 of 58

Last Updated: 04/28/2026