Sana Nasim, Colette Bichsel, Stephen Dayneka, Robert Mannix, Annegret Holm, Mathew Vivero, Sanda Alexandrescu, Anna Pinto, Arin K Greene, Donald E Ingber, Joyce Bischoff
Sturge-Weber syndrome (SWS), a neurocutaneous disorder, is characterized by capillary malformations (CM) in the skin, brain, and eyes. Patients may suffer from seizures, strokes, and glaucoma, and only symptomatic treatment is available. CM are comprised of enlarged vessels with endothelial cells (ECs) and disorganized mural cells. Our recent finding indicated that the R183Q mutation in ECs leads to heightened signaling through phospholipase Cβ3 and protein kinase C, leading to increased angiopoietin-2 (ANGPT2)...
March 26, 2024: Acta Neuropathologica Communications