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RNF213 is a large, poorly characterized interferon-induced protein. Mutations in RNF213 are associated with predisposition for Moyamoya disease (MMD), a rare cerebrovascular disorder. Recently, RNF213 was found to have broad antimicrobial activity in vitro and in vivo, yet the molecular mechanisms b...
ORGANISM(S): Homo sapiens (Human) 
2022-02-17 | PXD027130 | Pride
RNF213 is a giant E3 ubiquitin ligase and a major susceptibility factor of Moyamoya disease, a cerebrovascular disorder that can result in stroke or death. In the cell, RNF213 is involved in lipid droplet formation, lipotoxicity, hypoxia, and NF-κB signaling, but its exact function in these processe...
ORGANISM(S): Homo sapiens (Human) Mus musculus (Mouse) 
2026-08-18 | PXD025992 | Pride
RNF213 is the major susceptibility factor for Moyamoya disease, a progressive cerebrovascular disorder that often leads to brain stroke in adults and children. Characterization of disease-associated mutations has been complicated by the enormous size of RNF213. Here we present the cryo-EM structure ...
ORGANISM(S): Mus musculus (Mouse) 
2020-06-24 | PXD018701 | Pride
RNF213-associated urticarial lesions with hypercytokinemia
Roles of RNF213 in temporal resonse to palmitate in HeLa cells
We aimed to study roles of RNF213 in palmitate-induced signaling pathways using RNF213-knockout HeLa cells.
ORGANISM(S): Homo sapiens 
2026-08-10 | GSE310980 | GEO
Urticarial lesions are observed in both cutaneous and systemic disorders. Familial forms of urticarial syndromes are rare and can be encountered in systemic auto-inflammatory diseases. We investigated a large family with dominantly inherited chronic urticarial lesions associated with hypercytokinemi...
ORGANISM(S): Homo sapiens 
2022-07-01 | GSE168721 | GEO
To study the role of RNF213, we generated RNF213-deficient human cerebral microvascular endothelial cells by the CRISPR-Cas9 double nickase method and showed that RNF213 may be an important regulator of the blood-brain barrier permeability and homeostasis
ORGANISM(S): Homo sapiens 
2021-09-08 | GSE183603 | GEO
Identification of RNF213 as a potential suppressor of local invasion in intrahepatic cholangiocarcinoma
Gene expression in commercial human cerebral microvascular endothelial cells (hCMECs) line knock out or not for RNF213
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