Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Dec 2020

Peche Georges Arielle, Spiegelhalter Coralie, Silva-Rojas Roberto, Laporte Jocelyn, Böhm Johann

Abstract excerpt

Tubular aggregate myopathy (TAM) is a progressive disorder characterized by muscle weakness, cramps, and myalgia. TAM clinically overlaps with Stormorken syndrome (STRMK), combining TAM with miosis, thrombocytopenia, hyposplenism, ichthyosis, short stature, and dyslexia. TAM and STRMK arise from gain-of-function mutations in STIM1 (stromal interaction molecule 1) or ORAI1, both encoding key regulators of Ca2+...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood Platelet Disorders
Share to Dyslexia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Erythrocytes, Abnormal

Share to Ichthyosis

Share to Myopathies, Structural, Congenital

Share to NFATC Transcription Factors

Share to ORAI1 Protein

Share to Stromal Interaction Molecule 1

Source

Identifiers

PMID: 33073872
DOI: 10.1111/neup.12692

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome.PMID 33073872Read ↗

Functional analyses of <i>STIM1</i> mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

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

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

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

Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement.Semantic proximity Read ↗

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

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndromeSemantic proximity Read ↗

Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.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 ↗

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

⌁Select a neighboring publication to make it the new centre.