ArticleClinical genetics2016
Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension.
Article in Clinical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 79 citations in OpenAlex.
- Idiopathic achalasia: unraveling the etiology and pathogenesis of an inflammatory disease.Gastroenterology report · 2026Review
- Molecular and multimodal biomarkers in Moyamoya disease: from pathogenic mechanisms to clinical translation.European journal of medical research · 2026Review
- Moyamoya disease: epidemiology, clinical features, pathogenesis, diagnosis and therapeutic interventions.Molecular biomedicine · 2025Review
- 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
- Review
- Insights into the regulatory role of epigenetics in moyamoya disease: Current advances and future prospectives.Molecular therapy. Nucleic acids · 2024Review
- Cerebral arteriopathies of childhood and stroke - A focus on systemic arteriopathies and pediatric fibromuscular dysplasia (FMD).Vascular medicine (London, England) · 2024Review
- Prevalence of Systemic Hypertension and the Effects of Cerebral Revascularization in Patients With Moyamoya Disease.Stroke (Hoboken, N.J.) · 2024Article
- Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.Nature communications · 2023Article
- Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy.Human genomics · 2023Article
- Cellular Factors That Shape the Activity or Function of Nitric Oxide-Stimulated Soluble Guanylyl Cyclase.Cells · 2023Review
- Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study.Brain & spine · 2023Article
- Genetic Factors for Coronary Heart Disease and Their Mechanisms: A Meta-Analysis and Comprehensive Review of Common Variants from Genome-Wide Association Studies.Diagnostics (Basel, Switzerland) · 2022Review
- The Mechanism of Biochemical NO-Sensing: Insights from Computational Chemistry.Chemistry (Weinheim an der Bergstrasse, Germany) · 2022Article
- Progression in Moyamoya Disease: Clinical Features, Neuroimaging Evaluation, and Treatment.Current neuropharmacology · 2022Review
- Image-based patient-specific flow simulations are consistent with stroke in pediatric cerebrovascular disease.Biomechanics and modeling in mechanobiology · 2021Article
- Gemfibrozil derivatives as activators of soluble guanylyl cyclase - A structure-activity study.European journal of medicinal chemistry · 2021Article
- Western Moyamoya Phenotype: A Scoping Review.Cureus · 2021Article
- Moyamoya disease with refractory hypertension associated with peripheral arterial stenosis in the renal parenchyma.CEN case reports · 2021Article
Corrections and comments
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Authors and funding
16 authors at 6 institutions in 3 countries.
Funding
Abstract
Moyamoya disease (MMD) is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory moyamoya collateral vessels. Homozygous mutations in GUCY1A3 have been reported as a cause of MMD and achalasia. Probands (n = 96) from unrelated families underwent sequencing of GUCY1A3. Functional studies were performed to confirm the pathogenicity of identified GUCY1A3 variants. Two affected individuals from the unrelated families were found to have compound heterozygous mutations in GUCY1A3. MM041 was diagnosed with achalasia at 4 years of age, hypertension and MMD at 18 years of age. MM149 was diagnosed with MMD and hypertension at the age of 20 months. Both individuals carry one allele that is predicted to lead to haploinsufficiency and a second allele that is predicted to produce a mutated protein. Biochemical studies of one of these alleles, GUCY1A3 Cys517Tyr, showed that the mutant protein (a subunit of soluble guanylate cyclase) has a significantly blunted signaling response with exposure to nitric oxide (NO). GUCY1A3 missense and haploinsufficiency mutations disrupt NO signaling leading to MMD and hypertension, with or without achalasia.
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