ArticleBioinformation2013
A Structured-based Model for the Decreased Activity of Ala222Val and Glu429Ala Methylenetetrahydrofolate Reductase (MTHFR) Mutants.
Article in Bioinformation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Association between gene polymorphism of folate metabolism and recurrent spontaneous abortion in Asia: A Meta-analysis.Medicine · 2020Pooled it
- Meta-analysis of the relationship between methylenetetrahydrofolate reductase C677T and A1298C polymorphism and venous thromboembolism in the Caucasian and Asian.Bioscience reports · 2020Pooled it
- Homocysteine Metabolism Gene Polymorphisms (MTHFR C677T, MTHFR A1298C, MTR A2756G and MTRR A66G) Jointly Elevate the Risk of Folate Deficiency.Nutrients · 2015Trial
- The Fundamental Role of Nutrients for Metabolic Balance and Epigenome Integrity Maintenance.Epigenomes · 2025Review
- Review
- Association of the methylenetetrahydrofolate reductase (The Journal of international medical research · 2022Article
- TheDiabetology & metabolic syndrome · 2019Article
- The Role of Single-Nucleotide Polymorphisms in the Function of Candidate Tumor Suppressor ALDH1L1.Frontiers in genetics · 2019Review
- TNF-α and MTHFR Polymorphisms Associated with Cerebral Palsy in Chinese Infants.Molecular neurobiology · 2016Article
- Novel Approaches to Investigate One-Carbon Metabolism and Related B-Vitamins in Blood Pressure.Nutrients · 2016Review
- Synthetic combinations of missense polymorphic genetic changes underlying Down syndrome susceptibility.Cellular and molecular life sciences : CMLS · 2016Review
- Joint associations of folate, homocysteine and MTHFR, MTR and MTRR gene polymorphisms with dyslipidemia in a Chinese hypertensive population: a cross-sectional study.Lipids in health and disease · 2015Article
- Polymorphisms in the MTHFR gene are associated with breast cancer risk and prognosis in a Chinese population.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2015Article
- Signaling pathway genes for blood pressure, folate and cholesterol levels among hypertensives: an epistasis analysis.Journal of human hypertension · 2015Article
- Associations between genetic variation in one-carbon metabolism and LINE-1 DNA methylation in histologically normal breast tissues.Epigenetics · 2015Article
- Tagging SNPs in the MTHFR gene and risk of ischemic stroke in a Chinese population.International journal of molecular sciences · 2014Article
- Association of tagging SNPs in the MTHFR gene with risk of type 2 diabetes mellitus and serum homocysteine levels in a Chinese population.Disease markers · 2014Article
- Hydrocephalus presented as the prominent symptom of severe 5,10-methylenetetrahydrofolate reductase deficiency in an infant: A case report.Medicine internationalArticle
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The structure of human Methylenetetrahydrofolate Reductase (MTHFR) is not known either by NMR or by X-ray methods. Phosphorylation seems to play an important role in the functioning of this flavoprotein. MTHFR catalyzes an irreversible reaction in homocysteine metabolism. Phosphorylation decreases the activity of MTHFR by enhancing the sensitivity of the enzyme to SAdenosylmethione. Two common polymorphisms in MTHFR, Ala222Val and Glu429Ala, can result in a number of vascular diseases. Effects of the Glu429Ala polymorphism on the structure of human MTHFR remain undetermined due to limited structural information. Hence, structural models of the MTHFR mutants were constructed using I-TASSER and assessed by PROCHECK, DFIRE and Verify3D tools. A mechanism is further suggested for the decreased activity of the Ala222Val and Glu429Ala mutants due to a decrease in number of serine phosphorylation sites using information gleaned from the molecular models. This provides insights for the understanding of structure-function relationship for MTHFR.
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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.