Moyamoya Disease Susceptibility Gene RNF213 Regulates Endothelial Barrier Function.
Vincent RoyJay P RossRémy PépinSergio Cortez GhioAlyssa BrodeurLydia Touzel DeschênesGaëtan Le-BelDaniel E PhillipsGeneviève MilotPatrick A DionSylvain L GuérinLucie GermainFrançois BerthodFrancois A AugerGuy A RouleauNicolas DupreFrançois Gros-LouisPublished in: Stroke (2022)
Taken together, these results indicate that RNF213 could be a key regulator of cerebral endothelium integrity, whose disruption could be an early pathological mechanism leading to Moyamoya disease. This study also further reinforces the importance of blood-brain barrier integrity in the development of Moyamoya disease and other RNF213-associated diseases.