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Last Updated: 10/31/2025

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Found 53 publications

The spectrum of neuromuscular diseases with tubular aggregates.

The spectrum of neuromuscular diseases with tubular aggregates.

Journal: Neuromuscular disorders : NMD
Published: June 24, 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

STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome.

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.

Erratum: [Corrigendum] Stormorken syndrome caused by STIM1 mutation: A case report and literature review.

Journal: Medicine international
Published: January 11, 2024

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.

Journal: JCI insight
Published: August 16, 2023

A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.

A single amino acid deletion in the ER Ca2+ sensor STIM1 reverses the in vitro and in vivo effects of the Stormorken syndrome-causing R304W mutation.

Journal: Science signaling
Published: February 07, 2023

The CalDAG-GEFI/Rap1/αIIbβ3 axis minimally contributes to accelerated platelet clearance in mice with constitutive store-operated calcium entry.

The CalDAG-GEFI/Rap1/αIIbβ3 axis minimally contributes to accelerated platelet clearance in mice with constitutive store-operated calcium entry.

Journal: Platelets
Published: January 23, 2023
Showing 1-12 of 53

Last Updated: 10/31/2025