ArticleJournal of vascular anomalies2024
R183Q GNAQ Sturge-Weber syndrome Leptomeningeal and Cerebrovascular Developmental Mouse Model.
Article in Journal of vascular anomalies, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Steroids for Drug-Resistant Seizures and Prolonged Stroke-Like Episode in a Patient With Sturge-Weber Syndrome: A Case Report.Annals of the Child Neurology Society · 2026Article
- In Vitro Models of Sturge-Weber Syndrome: Strengths, Limitations, and Future Goals.International journal of molecular sciences · 2026Review
- Acute Seizure Susceptibility and Chronic Vascular Malformation in a Developmental Mouse Model of Sturge-Weber Syndrome.International journal of molecular sciences · 2026Article
- MAPK signaling and angiopoietin-2 contribute to endothelial permeability in capillary malformations.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Biomarker development in Sturge-Weber syndrome.Journal of neurodevelopmental disorders · 2025Review
- An endothelial specific mouse model for the capillary malformation mutation Gnaq p.R183Q.Angiogenesis · 2025Article
- Sturge-Weber syndrome: updates in translational neurology.Frontiers in neurology · 2024Review
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Objectives: Sturge-Weber syndrome (SWS), a rare neurovascular malformation disorder, is usually caused by the R183Q GNAQ somatic mosaic mutation enriched in brain endothelial cells. A developmental mouse model of SWS brain involvement is needed to investigate mutation impact upon brain vascular development and to facilitate preclinical drug studies. Methods: A new Tet-ON R183Q GNAQ transgenic mouse line was paired with rtTA tet transactivator mice under the Results: X-gal staining was seen only in mutant mice; leptomeningeal endothelial X-gal staining was more frequent in kainate-treated mice ( Conclusions: The new R183Q GNAQ Tet-ON developmental mouse brain model of SWS demonstrates endothelial expression of mutant Gαq associated with blood brain barrier breakdown, altered vascular mTOR activity, and abnormal cortical microvessel structure. This new translational model can be used to develop new drug targets and treatments for SWS.
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Registered trials
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