Moyamoya disease: diagnosis and interventions

M Ihara, Y Yamamoto, Y Hattori, W Liu… - The Lancet …, 2022‏ - thelancet.com
Moyamoya disease is a rare cause of stroke, radiologically characterised by progressive
stenosis of the terminal portion of the internal carotid arteries and compensatory capillary …

The genetic basis of moyamoya disease

R Mertens, M Graupera, H Gerhardt, A Bersano… - Translational stroke …, 2022‏ - Springer
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive
spontaneous bilateral occlusion of the intracranial internal cerebral arteries (ICA) and their …

Moyamoya disease emerging as an immune-related angiopathy

C Asselman, D Hemelsoet, D Eggermont… - Trends in Molecular …, 2022‏ - cell.com
Moyamoya disease (MMD) is a rare cerebrovascular disorder with unknown etiology. MMD
is characterized by progressive narrowing of arteries of the brain and the formation of a …

[HTML][HTML] Epidemiology, diagnosis and treatment of moyamoya disease

H Zhang, L Zheng, L Feng - Experimental and …, 2019‏ - spandidos-publications.com
Moyamoya disease (MMD) is a type of chronic cerebrovascular occlusion disease, which
frequently occurs in East Asian populations, including pediatric and adult patients, and may …

European stroke organisation (ESO) guidelines on moyamoya angiopathy endorsed by vascular european reference network (VASCERN)

A Bersano, N Khan, B Fuentes, F Acerbi… - European Stroke …, 2023‏ - journals.sagepub.com
The European Stroke Organisation (ESO) guidelines on Moyamoya Angiopathy (MMA),
developed according to ESO standard operating procedure and Grading of …

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

M Sugihara, D Morito, S Ainuki, Y Hirano… - Journal of Cell …, 2019‏ - rupress.org
Mysterin, also known as RNF213, is an intracellular protein that forms large toroidal
oligomers. Mysterin was originally identified in genetic studies of moyamoya disease (MMD) …

RNF213 and GUCY1A3 in moyamoya disease: key regulators of metabolism, inflammation, and vascular stability

Y Mineharu, S Miyamoto - Frontiers in Neurology, 2021‏ - frontiersin.org
Moyamoya disease is an idiopathic chronically progressive cerebrovascular disease, which
causes both ischemic and hemorrhagic stroke. Genetic studies identified RNF213/Mysterin …

Novel multifaceted roles for RNF213 protein

G Pollaci, G Gorla, A Potenza, T Carrozzini… - International Journal of …, 2022‏ - mdpi.com
Ring Finger Protein 213 (RNF213), also known as Mysterin, is the major susceptibility factor
for Moyamoya Arteriopathy (MA), a progressive cerebrovascular disorder that often leads to …

Recognition of phylogenetically diverse pathogens through enzymatically amplified recruitment of RNF213

A Crespillo-Casado, P Pothukuchi, K Naydenova… - EMBO …, 2024‏ - embopress.org
Innate immunity senses microbial ligands known as pathogen-associated molecular
patterns (PAMPs). Except for nucleic acids, PAMPs are exceedingly taxa-specific, thus …

Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

C Vilariño-Güell, A Zimprich, F Martinelli-Boneschi… - PLoS …, 2019‏ - journals.plos.org
Multiple sclerosis (MS) is an inflammatory disease of the central nervous system
characterized by myelin loss and neuronal dysfunction. Although the majority of patients do …