ArticleJournal of the American Heart Association2015
Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo.
Article in Journal of the American Heart Association, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 3 of them syntheses that pooled it.
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Who cites it
91 citing papers in PubMed, 3 syntheses or guidelines pooled it, 159 citations in OpenAlex.
- Pooled it
- Mapping Trends in Moyamoya Angiopathy Research: A 10-Year Bibliometric and Visualization-Based Analyses of the Web of Science Core Collection (WoSCC).Frontiers in neurology · 2021Pooled it
- Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review.Environmental health and preventive medicine · 2017Pooled it
- Intracranial Arterial Stenosis beyond Atherosclerosis: Insights from RNF213.Journal of atherosclerosis and thrombosis · 2026Review
- RNF213 in Panvascular Disease: A Molecular Hub Linking Genetic Susceptibility to Systemic Vasculopathy.Biomedicines · 2026Review
- RNF213 Is an Interferon-Stimulated Gene That Targets Influenza A Virus NP and Activates MDA5 to Restrict Infection.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Delineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy.European journal of human genetics : EJHG · 2026Article
- Ring finger protein 213 regulates B-cell receptor signaling, metabolism, and development in B lymphocytes.Signal transduction and targeted therapy · 2026Article
- Molecular and multimodal biomarkers in Moyamoya disease: from pathogenic mechanisms to clinical translation.European journal of medical research · 2026Review
- Metabolic Syndrome and Risk of Moyamoya Vasculopathy and Subsequent Stroke in Young Adults.Journal of the American Heart Association · 2025Article
- Moyamoya disease: epidemiology, clinical features, pathogenesis, diagnosis and therapeutic interventions.Molecular biomedicine · 2025Review
- Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.International journal of molecular sciences · 2025Review
- Review
- RNF213 governs divergent tumor-immune dynamics across human cancers: a prognostic biomarker for immunotherapy stratification.Discover oncology · 2025Article
- Machine learning identifies KRT8 dysregulation and endothelial remodeling in Moyamoya disease.Scientific reports · 2025Article
- The Guanylate Cyclase Soluble Subunit Alpha-1 Deficiency Impairs Angiogenesis in Zebrafishes and Mice: In Vivo and In Vitro Studies.Molecular neurobiology · 2025Article
- RNF213-Dependent EGFR and HER2 Activation Regulates Specific Downstream Signaling Pathways in Human Cancer Cells.Genes to cells : devoted to molecular & cellular mechanisms · 2025Article
- De novo variant in RING finger protein 213 causes systemic vasculopathy.JCI insight · 2025Article
- Recent Advances in Genetics of Moyamoya Disease: Insights into the Different Pathogenic Pathways.International journal of molecular sciences · 2025Review
- A Machine Learning-Based Diagnostic Nomogram for Moyamoya Disease: The Validation of Hypoxia-Immune Gene Signatures.Bioengineering (Basel, Switzerland) · 2025Article
31 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundP.R4810K of RNF213 (mysterin: rs112735431), which is an AAA(+) ATPase, is the susceptibility polymorphism for moyamoya disease (MMD) in East Asians. However, the role of RNF213 R4810K in the etiology of MMD is unknown. METHODS AND
resultsTo clarify the role of RNF213 in known angiogenic pathways, RNF213 expression was analyzed in endothelial cells (ECs) treated with several angiogenic and antiangiogenic factors, including interferons (IFNs). RNF213 was upregulated by IFN-β through signal transducer and activator of transcription x in the promoter and mediated antiangiogenic activity of IFN-β. RNF213 wild-type (WT) overexpression could not lower angiogenesis without IFN-β, but RNF213 R4810K overexpression could. To correlate biochemical function as ATPase and the role of RNF213 oligomer formation with antiangiogenic activity, we investigated the effects of mutations in the AAA(+) module. A mutation of the Walker B motif (WEQ), which stabilizes oligomerization, inhibited angiogenesis, but AAA(+) module deletion, which cannot initiate oligomerization, did not. Intriguingly, R4810K, similar to WEQ, decreased ATPase activity, suggesting its antiangiogenic activity through stabilizing oligomers. To confirm the antiangiogenic effect of RNF213 upregulation in vivo, vascular EC- or smooth muscle cell-specific Rnf213 R4757K (R4810K ortholog) or WT transgenic (Tg) mice were exposed to hypoxia. Cerebral angiogenesis by hypoxia was suppressed in EC-specific Rnf213 R4757K Tg mice, whereas it was not suppressed in other mice.
conclusionsThis study suggests the importance of inflammatory signals as environmental factors and R4810K carriers for susceptibility to cerebral hypoxia. A specific inhibitor of ATP binding to the first AAA(+) could be a promising therapeutic candidate for MMD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.