Associated Papers
The role of the RING finger protein 213 gene in Moyamoya disease.
Deng X et al.
Fluids and Barriers of the Cns, 2025
Exploring RNF213 in Ischemic Stroke and Moyamoya Disease: From Cellular Models to Clinical Insights.
Tan BYQ et al.
Biomedicines, 2024
Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype-phenotype correlation.
Sadhukhan D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
MMD-associated RNF213 SNPs encode dominant-negative alleles that globally impair ubiquitylation.
Bhardwaj A et al.
Life Science Alliance, 2022
RNF213-Associated Vascular Disease: A Concept Unifying Various Vasculopathies.
Hiraide T et al.
Life (basel, Switzerland), 2022
DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.
Kundishora AJ et al.
Jama Neurology, 2021
Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.
Pinard A et al.
Neurology, 2021
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.
Hongo H et al.
Scientific Reports, 2020
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.
Takeda M et al.
Biochemical and Biophysical Research Communications, 2020
The AAA+ ATPase/ubiquitin ligase mysterin stabilizes cytoplasmic lipid droplets.
Sugihara M et al.
The Journal of Cell Biology, 2019
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.
Guey S et al.
European Journal of Human Genetics : Ejhg, 2017
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