RNF213 and GUCY1A3 in Moyamoya Disease: Key Regulators of Metabolism, Inflammation, and Vascular Stability

The ring finger protein 213 gene (Rnf213) contributes to Rift Valley fever resistance in mice

(2021) Denis Houzelstein et al.   MAMMALIAN GENOME

Vulnerability to shear stress caused by altered peri-endothelial matrix is a key feature of Moyamoya disease

(2021) Muneaki Matsuo et al.   Scientific Reports

Efficacy and Safety of Antiplatelet Agents for Adult Patients With Ischemic Moyamoya Disease

(2021) Fei Ye et al.   Frontiers in Neurology

Ubiquitylation of lipopolysaccharide by RNF213 during bacterial infection

(2021) Elsje G. Otten et al.   NATURE

Moyamoya disease patient mutations in the RING domain of RNF213 reduce its ubiquitin ligase activity and enhance NFκB activation and apoptosis in an AAA+ domain-dependent manner

(2020) Midori Takeda et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Association of single nucleotide polymorphisms of MTHFR, TCN2, RNF213 with susceptibility to hypertension and blood pressure

(2020) Shan Liu et al.   BIOSCIENCE REPORTS

Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease

(2020) Yue Wang et al.   NEUROLOGY

Perivascular Adipose Tissue Regulates Vascular Function by Targeting Vascular Smooth Muscle Cells

(2020) Lin Chang et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease

(2020) Jana Key et al.   NEUROGENETICS

Clinical Course of Unilateral Moyamoya Disease

(2020) Ephraim W Church et al.   NEUROSURGERY

Modifiable Risk Factors Associated With Moyamoya Disease

(2020) Peicong Ge et al.   STROKE

Moyamoya disease factor RNF213 is a giant E3 ligase with a dynein-like core and a distinct ubiquitin-transfer mechanism

(2020) Juraj Ahel et al.   eLife

Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease

(2020) Satoshi Koyama et al.   NATURE GENETICS

Association Between the Onset Pattern of Adult Moyamoya Disease and Risk Factors for Stroke

(2020) Yudai Hirano et al.   STROKE

Vascular Smooth Muscle Cell Derived from IPS Cell of Moyamoya Disease - Comparative Characterization with Endothelial Cell Transcriptome

(2020) Kikutaro Tokairin et al.   Journal of Stroke & Cerebrovascular Diseases

Moyamoya Disease Susceptibility Variant RNF213 p.R4810K Increases the Risk of Ischemic Stroke Attributable to Large-Artery Atherosclerosis

(2019) Shuhei Okazaki et al.   CIRCULATION

S-nitrosylation of E3 ubiquitin-protein ligase RNF213 alters non-canonical Wnt/Ca+2 signaling in the P301S mouse model of tauopathy

(2019) Haitham Amal et al.   Translational Psychiatry

Probing the Global Cellular Responses to Lipotoxicity Caused by Saturated Fatty Acids

(2019) Manuele Piccolis et al.   MOLECULAR CELL

The AAA+ ATPase/ubiquitin ligase mysterin stabilizes cytoplasmic lipid droplets

(2019) Munechika Sugihara et al.   JOURNAL OF CELL BIOLOGY

Role and mechanism of homocysteine in affecting hepatic protein-tyrosine phosphatase 1B

(2019) Ping Liu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Prevalence of RNF213 p.R4810K Variant in Early-Onset Stroke With Intracranial Arterial Stenosis

(2019) Teppei Kamimura et al.   STROKE

Associations between GUCY1A3 genetic polymorphisms and large artery atherosclerotic stroke risk in Chinese Han population: a case-control study

(2019) Jian-li Li et al.   Lipids in Health and Disease

Two-Year Clinical, Cerebral Hemodynamic, and Cognitive Outcomes of Adult Patients Undergoing Medication Alone for Symptomatically Ischemic Moyamoya Disease Without Cerebral Misery Perfusion: A Prospective Cohort Study

(2018) Kenya Miyoshi et al.   NEUROSURGERY

Genetic alterations in the NO-cGMP pathway and cardiovascular risk

(2018) Jana Wobst et al.   NITRIC OXIDE-BIOLOGY AND CHEMISTRY

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1

(2018) Claudia Santoro et al.   PLoS One

Perivascular Adipose Tissue: the Sixth Man of the Cardiovascular System

(2018) Chak Kwong Cheng et al.   CARDIOVASCULAR DRUGS AND THERAPY

SAMHD1 acts at stalled replication forks to prevent interferon induction

(2018) Flavie Coquel et al.   NATURE

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

(2017) Stéphanie Guey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mitochondrial abnormalities related to the dysfunction of circulating endothelial colony-forming cells in moyamoya disease

(2017) Jung Won Choi et al.   JOURNAL OF NEUROSURGERY

Anti-fibrotic effects of soluble guanylate cyclase stimulators and activators: A review of the preclinical evidence

(2017) Peter Sandner et al.   RESPIRATORY MEDICINE

Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study

(2017) Lian Duan et al.   STROKE

Chemokine Ligand 5 (CCL5) Derived from Endothelial Colony-Forming Cells (ECFCs) Mediates Recruitment of Smooth Muscle Progenitor Cells (SPCs) toward Critical Vascular Locations in Moyamoya Disease

(2017) Ji Hoon Phi et al.   PLoS One

Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease

(2017) Takaaki Morimoto et al.   PLoS One

Homozygosity for moyamoya disease risk allele leads to moyamoya disease with extracranial systemic and pulmonary vasculopathy

(2016) Hiroyuki Fukushima et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Disrupted nitric oxide signaling due toGUCY1A3mutations increases risk for moyamoya disease, achalasia and hypertension

(2016) S. Wallace et al.   CLINICAL GENETICS

Endothelial RSPO3 Controls Vascular Stability and Pruning through Non-canonical WNT/Ca 2+ /NFAT Signaling

(2016) Beate Scholz et al.   DEVELOPMENTAL CELL

Caveolin-1, Ring finger protein 213, and endothelial function in Moyamoya disease

(2016) Oh Young Bang et al.   International Journal of Stroke

Aging has the opposite effect on cAMP and cGMP circadian variations in rat Leydig cells

(2016) Aleksandar Z. Baburski et al.   JOURNAL OF COMPARATIVE PHYSIOLOGY B-BIOCHEMICAL SYSTEMIC AND ENVIRONMENTAL PHYSIOLOGY

Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease

(2016) Takaaki Morimoto et al.   Journal of Stroke & Cerebrovascular Diseases

PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia

(2016) Robert S. Banh et al.   NATURE CELL BIOLOGY

The increasing complexity of the ubiquitin code

(2016) Richard Yau et al.   NATURE CELL BIOLOGY

The role of lipid droplet formation in the protection of unsaturated fatty acids against palmitic acid induced lipotoxicity to rat insulin-producing cells

(2016) Thomas Plötz et al.   Nutrition & Metabolism

Significant Association of the RNF213 p.R4810K Polymorphism with Quasi-Moyamoya Disease

(2016) Takaaki Morimoto et al.   Journal of Stroke & Cerebrovascular Diseases

Cellular Functions and Gene and Protein Expression Profiles in Endothelial Cells Derived from Moyamoya Disease-Specific iPS Cells

(2016) Shuji Hamauchi et al.   PLoS One

RNF213 Rare Variants in Slovakian and Czech Moyamoya Disease Patients

(2016) Hatasu Kobayashi et al.   PLoS One

Adult Moyamoya Disease: A Burden of Intracranial Stenosis in East Asians?

(2015) Oh Young Bang et al.   PLoS One

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells

(2015) Kazuhiro Ohkubo et al.   Scientific Reports

Genetic Architecture of Atherosclerosis in Mice: A Systems Genetics Analysis of Common Inbred Strains

(2015) Brian J. Bennett et al.   PLoS Genetics

Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease

(2015) Y. Moteki et al.   Journal of the American Heart Association

A new horizon of moyamoya disease and associated health risks explored through RNF213

(2015) Akio Koizumi et al.   Environmental Health and Preventive Medicine

Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia

(2014) Dominique Hervé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Perivascular Adipose Tissue in Vascular Function and Disease

(2014) Nicholas K. Brown et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

 1-A680T Variant in GUCY1A3 as a Candidate Conferring Protection From Pulmonary Hypertension Among Kyrgyz Highlanders

(2014) M. R. Wilkins et al.   Circulation-Cardiovascular Genetics

Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients

(2013) Toshiaki Hitomi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Ablation of Rnf213 retards progression of diabetes in the Akita mouse

(2013) Hatasu Kobayashi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

(2013) Jeanette Erdmann et al.   NATURE

Soluble guanylyl cyclase is a target of angiotensin II-induced nitrosative stress in a hypertensive rat model

(2012) Pierre-Antoine Crassous et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Ubiquitin-Binding Proteins: Decoders of Ubiquitin-Mediated Cellular Functions

(2012) Koraljka Husnjak et al.   Annual Review of Biochemistry

Molecular biology and genetic diversity of Rift Valley fever virus

(2012) Tetsuro Ikegami   ANTIVIRAL RESEARCH

Calcium regulates caveolin-1 expression at the transcriptional level

(2012) Xiao-Yan Yang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Rift Valley Fever Virus Strain MP-12 Enters Mammalian Host Cells via Caveola-Mediated Endocytosis

(2012) B. Harmon et al.   JOURNAL OF VIROLOGY

Nitric oxide–dependent Src activation and resultant caveolin-1 phosphorylation promote eNOS/caveolin-1 binding and eNOS inhibition

(2012) Zhenlong Chen et al.   MOLECULAR BIOLOGY OF THE CELL

Homozygous c.l4576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease

(2012) S. Miyatake et al.   NEUROLOGY

Clinical and Immunopathological Features of Moyamoya Disease

(2012) Runhua Lin et al.   PLoS One

Molecular Analysis of RNF213 Gene for Moyamoya Disease in the Chinese Han Population

(2012) Zhiyuan Wu et al.   PLoS One

Identification of a Genetic Variant Common to Moyamoya Disease and Intracranial Major Artery Stenosis/Occlusion

(2012) Satoru Miyawaki et al.   STROKE

P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure

(2012) Akio Koizumi et al.   Environmental Health and Preventive Medicine

Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya

(2011) Snaigune Miskinyte et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Modulating endothelial nitric oxide synthase: a new cardiovascular therapeutic strategy

(2011) Yixuan Zhang et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Biphasic roles for soluble guanylyl cyclase (sGC) in platelet activation

(2011) G. Zhang et al.   BLOOD

VEGF increases the proliferative capacity and eNOS/NO levels of endothelial progenitor cells through the calcineurin/NFAT signalling pathway

(2011) Long Yang et al.   CELL BIOLOGY INTERNATIONAL

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

(2011) Georg B. Ehret et al.   NATURE

Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

(2011) Wanyang Liu et al.   PLoS One

Rift Valley fever virus inhibits a pro-inflammatory response in experimentally infected human monocyte derived macrophages and a pro-inflammatory cytokine response may be associated with patient survival during natural infection

(2011) Anita K. McElroy et al.   VIROLOGY

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

(2009) Dong-Chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Akt/Protein Kinase B and Glycogen Synthase Kinase-3  Signaling Pathway Regulates Cell Migration through the NFAT1 Transcription Factor

(2009) M. Yoeli-Lerner et al.   MOLECULAR CANCER RESEARCH

The course and outcome of unilateral intracranial arteriopathy in 79 children with ischaemic stroke

(2008) K. P. J. Braun et al.   BRAIN

Characterization of the Human α1β1Soluble Guanylyl Cyclase Promoter

(2008) Martín L. Marro et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Moyamoya disease: current concepts and future perspectives

(2008) Satoshi Kuroda et al.   LANCET NEUROLOGY

Autosomal dominant moyamoya disease maps to chromosome 17q25.3

(2008) Y. Mineharu et al.   NEUROLOGY