A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy Article Swipe
Celia Cordero-Sánchez
,
Beatrice Riva
,
Simone Reano
,
Nausicaa Clemente
,
Ivan Zaggia
,
Federico Alessandro Ruffinatti
,
Alberto Potenzieri
,
Tracey Pirali
,
Salvatore Raffa
,
Sabina Sangaletti
,
Mario P. Colombo
,
Alessandra Bertoni
,
Matteo Garibaldi
,
Nicoletta Filigheddu
,
Armando A. Genazzani
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1242/dmm.041111
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1242/dmm.041111
STIM and ORAI proteins play a fundamental role in calcium signaling, allowing for calcium influx through the plasma membrane upon depletion of intracellular stores, in a process known as store-operated Ca2+ entry. Point mutations that lead to gain-of-function activity of either STIM1 or ORAI1 are responsible for a cluster of ultra-rare syndromes characterized by motor disturbances and platelet dysfunction. The prevalence of these disorders is at present unknown. In this study, we describe the generation and characterization of a knock-in mouse model (KI-STIM1I115F) that bears a clinically relevant mutation located in one of the two calcium-sensing EF-hand motifs of STIM1. The mouse colony is viable and fertile. Myotubes from these mice show an increased store-operated Ca2+ entry, as predicted. This most likely causes the dystrophic muscle phenotype observed, which worsens with age. Such histological features are not accompanied by a significant increase in creatine kinase. However, animals have significantly worse performance in rotarod and treadmill tests, showing increased susceptibility to fatigue, in analogy to the human disease. The mice also show increased bleeding time and thrombocytopenia, as well as an unexpected defect in the myeloid lineage and in natural killer cells. The present model, together with recently described models bearing the R304W mutation (located on the coiled-coil domain in the cytosolic side of STIM1), represents an ideal platform to characterize the disorder and test therapeutic strategies for patients with STIM1 mutations, currently without therapeutic solutions. This article has an associated First Person interview with Celia Cordero-Sanchez, co-first author of the paper.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1242/dmm.041111
- https://dmm.biologists.org/content/dmm/13/2/dmm041111.full.pdf
- OA Status
- gold
- Cited By
- 23
- References
- 30
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2982358785
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2982358785Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1242/dmm.041111Digital Object Identifier
- Title
-
A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyWork title
- Type
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articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-10-30Full publication date if available
- Authors
-
Celia Cordero-Sánchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico Alessandro Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. GenazzaniList of authors in order
- Landing page
-
https://doi.org/10.1242/dmm.041111Publisher landing page
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https://dmm.biologists.org/content/dmm/13/2/dmm041111.full.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://dmm.biologists.org/content/dmm/13/2/dmm041111.full.pdfDirect OA link when available
- Concepts
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Myopathy, Mutation, Aggregate (composite), Biology, Genetics, Internal medicine, Cell biology, Medicine, Gene, Nanotechnology, Materials scienceTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
23Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 4, 2023: 2, 2022: 4, 2021: 6Per-year citation counts (last 5 years)
- References (count)
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30Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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