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Article

STIM1 GoF Mutants: Genotype-Phenotype Relationships Across the Stormorken/TAM/YPS Spectrum.

Cells - 18 May 2026

Atzgerstorfer Lara, Prantl Magdalena, Waldhauser Andrea, Derler Isabella, Fahrner Marc

Abstract excerpt

Store-operated Calcium (Ca2+) entry (SOCE), mediated by stromal interaction molecule 1 (STIM1) and Orai1, is a central pathway controlling intracellular Ca2+ homeostasis. Gain-of-function (GoF) mutations in STIM1 cause a spectrum of clinically overlapping disorders historically classified as Stormorken Syndrome (STK), tubular aggregate myopathy (TAM), and York Platelet Syndrome (YPS). However, increasing evidence...

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Source

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Identifiers

PMID: 42193934
DOI: 10.3390/cells15100926
PMCID: PMC13204625

Genes

STIM1

Provenance

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

Related research

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STIM1 GoF Mutants: Genotype-Phenotype Relationships Across the Stormorken/TAM/YPS Spectrum.PMID 42193934Read ↗

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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Diseases caused by mutations in ORAI1 and STIM1.Semantic proximity Read ↗

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

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.Semantic proximity Read ↗

Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken SyndromeSemantic proximity Read ↗

The Ca2+ Sensor STIM in Human Diseases.Semantic proximity Read ↗

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.Semantic proximity Read ↗

A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.Semantic proximity Read ↗

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

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiencySemantic proximity Read ↗

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