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Last Updated: 01/07/2026
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Found 55 publications
DHHC21 is a STIM1 protein S-acyltransferase that modulates immune function in vivo.
Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025
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.
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.
Journal: Genetics
Published: May 24, 2025
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.
Journal: bioRxiv : the preprint server for biology
Published: February 03, 2025
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).
Journal: Cell calcium
Published: January 14, 2025
STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome.
Journal: Journal of medical genetics
Published: July 24, 2024
Erratum: [Corrigendum] Stormorken syndrome caused by STIM1 mutation: A case report and literature review.
Journal: Medicine international
Published: January 11, 2024
Last Updated: 01/07/2026