RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway.

ABSTRACT: Moyamoya disease is an uncommon cerebrovascular disorder characterized by steno-occlusive changes in the circle of Willis and abnormal vascular network development. Ring finger protein 213 (RNF213) has been identified as an important susceptibility gene for Asian patients, but researchers have not completely elucidated whether RNF213 mutations affect the pathogenesis of moyamoya disease. Using donor superficial temporal artery samples, whole-genome sequencing was performed to identify RNF213 mutation types in patients with moyamoya disease, and histopathology was performed to compare morphological differences between patients with moyamoya disease and intracranial aneurysm. The vascular phenotype of RNF213-deficient mice and zebrafish was explored in vivo, and RNF213 knockdown in human bra

SUBMITTER: Ye F 

PROVIDER: S-EPMC10629795 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature