R183Q GNAQ Sturge–Weber Syndrome Leptomeningeal and Cerebrovascular Developmental Mouse Model
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.
Authors
- Meghan McCann (ORCID: https://orcid.org/0000-0003-2081-4645)
- Anne M. Comi (ORCID: https://orcid.org/0000-0001-7915-6881)
- Pratibha Singh (ORCID: https://orcid.org/0000-0002-3088-3153)
- Christina L. Nemeth (ORCID: https://orcid.org/0000-0002-1722-265X)
- Chase Solomon
Institutions
- Kennedy Krieger Institute (US)
- Johns Hopkins University (US)
Publication Details
- Journal
- Journal of Vascular Anomalies
- Published
- 2024-09-30
- DOI
- https://doi.org/10.1097/jova.0000000000000099
- Citations
- 5
- Primary Topic
- Vascular Malformations and Hemangiomas
- Type
- article
- Field-Weighted Citation Impact
- 2.86
Funders
- Hope Foundation
- Intellectual and Developmental Disabilities Research Center