MTHFD1

Summary

Gene Symbol: MTHFD1
Description: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
Alias: MTHFC, MTHFD, C-1-tetrahydrofolate synthase, cytoplasmic, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase, C1-THF synthase, cytoplasmic C-1-tetrahydrofolate synthase, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
Species: human

Top Publications

  1. ncbi The N-terminal, dehydrogenase/cyclohydrolase domain of yeast cytoplasmic trifunctional C1-tetrahydrofolate synthase requires the C-terminal, synthetase domain for the catalytic activity in vitro
    J M Song
    Department of Molecular and Cell Biology, University of California, Berkeley 94720, USA
    FEBS Lett 376:229-32. 1995
  2. pmc 13C nuclear magnetic resonance detection of interactions of serine hydroxymethyltransferase with C1-tetrahydrofolate synthase and glycine decarboxylase complex activities in Arabidopsis
    V Prabhu
    Department of Biology, University of Saskatchewan, Saskatoon, Canada
    Plant Physiol 112:207-16. 1996
  3. ncbi A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss
    Anne Parle-McDermott
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    Mol Hum Reprod 11:477-80. 2005
  4. ncbi MTR 2756 A > G polymorphism is associated with the risk of systemic lupus erythematosus in the Polish population
    M Burzynski
    Department of Biochemistry and Molecular Biology, Poznaań University of Medical Sciences, Poznan, Poland
    Lupus 16:450-4. 2007
  5. doi MTHFR c.1793G>A polymorphism is associated with congenital cardiac disease in a Chinese population
    Jing Xu
    Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Peoples Republic of China
    Cardiol Young 20:318-26. 2010
  6. pmc A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis
    Anthony J Griswold
    John P Hussman Institute for Human Genomics, University of Miami, Miami, Florida 33136, USA
    Autism Res 4:221-7. 2011
  7. ncbi The 3-D structure of a folate-dependent dehydrogenase/cyclohydrolase bifunctional enzyme at 1.5 A resolution
    M Allaire
    Biotechnology Research Institute, Montreal, Quebec, Canada
    Structure 6:173-82. 1998
  8. ncbi Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase
    D W Hum
    Department of Biochemistry, McGill University, Montreal, Canada
    J Biol Chem 263:15946-50. 1988
  9. ncbi Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects
    F A Hol
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Clin Genet 53:119-25. 1998
  10. ncbi Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2
    Min Shi
    Biology Department, University of Iowa, Iowa City, Iowa 52242, USA
    Birth Defects Res A Clin Mol Teratol 67:545-9. 2003

Research Grants

  1. Patrick J Stover; Fiscal Year: 2016
  2. HUMAN MITOCHONDRIAL CI-TETRAHYDROFOLATE SYNTHASE
    DEAN APPLING; Fiscal Year: 2005
  3. ORGANIZATION OF ONE-CARBON METABOLISM--A YEAST MODEL
    DEAN APPLING; Fiscal Year: 1999
  4. Folate Polymorphisms, Dietary Folate and Prostate Cancer
    Victoria Stevens; Fiscal Year: 2005
  5. GENE-ENVIRONMENT INTERACTION AND COLON CARCINOGENESIS
    Jia Chen; Fiscal Year: 2002
  6. FOLATE PATHWAY GENES AND RISK FOR OROFACIAL CLEFTS
    Gary Shaw; Fiscal Year: 2002
  7. Diethanolamine, brain development and adult memory
    Steven Zeisel; Fiscal Year: 2006
  8. NUTRITIONAL BIOCHEMISTRY AND EPIDEMIOLOGY OF CANCER
    Steven Zeisel; Fiscal Year: 2006
  9. Gene-nutrient Etiologies of Neural Tube Defects
    Gary M Shaw; Fiscal Year: 2010
  10. Dietary Methyl Content, Epigenetics and Breast Cancer
    Jia Chen; Fiscal Year: 2010

Scientific Experts

Detail Information

Publications152 found, 100 shown here

  1. ncbi The N-terminal, dehydrogenase/cyclohydrolase domain of yeast cytoplasmic trifunctional C1-tetrahydrofolate synthase requires the C-terminal, synthetase domain for the catalytic activity in vitro
    J M Song
    Department of Molecular and Cell Biology, University of California, Berkeley 94720, USA
    FEBS Lett 376:229-32. 1995
    ..These results indicate that the N-terminal D/C domain of C1-THF synthase requires the C-terminal 10-formyl-THF synthetase domain for stable catalytic activity in vitro...
  2. pmc 13C nuclear magnetic resonance detection of interactions of serine hydroxymethyltransferase with C1-tetrahydrofolate synthase and glycine decarboxylase complex activities in Arabidopsis
    V Prabhu
    Department of Biology, University of Saskatchewan, Saskatoon, Canada
    Plant Physiol 112:207-16. 1996
    ..The results suggest that continuous supply of THF is essential to maintain high rates of serine metabolism. Nuclear magnetic resonance is a powerful tool for the examination of THF-mediated metabolism in its natural cellular environment...
  3. ncbi A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss
    Anne Parle-McDermott
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    Mol Hum Reprod 11:477-80. 2005
    ..The primary aim of this study was to test a polymorphism within the trifunctional folate enzyme MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase, 10-..
  4. ncbi MTR 2756 A > G polymorphism is associated with the risk of systemic lupus erythematosus in the Polish population
    M Burzynski
    Department of Biochemistry and Molecular Biology, Poznaań University of Medical Sciences, Poznan, Poland
    Lupus 16:450-4. 2007
    ..dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase (MTHFD1); and methylenetetrahydrofolate reductase (MTHFR)...
  5. doi MTHFR c.1793G>A polymorphism is associated with congenital cardiac disease in a Chinese population
    Jing Xu
    Department of Thoracic and Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Peoples Republic of China
    Cardiol Young 20:318-26. 2010
    To investigate whether genetic variants in methylenetetrahydrofolate reductase (MTHFR) and methylenetetrahydrofolate dehydrogenase (MTHFD) genes are associated with risk of congenital cardiac disease.
  6. pmc A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis
    Anthony J Griswold
    John P Hussman Institute for Human Genomics, University of Miami, Miami, Florida 33136, USA
    Autism Res 4:221-7. 2011
    ..a cytoskeletal protein previously associated with spherocytosis, methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), a folate metabolizing enzyme previously associated with bipoloar disorder and schizophrenia, pleckstrin homology ..
  7. ncbi The 3-D structure of a folate-dependent dehydrogenase/cyclohydrolase bifunctional enzyme at 1.5 A resolution
    M Allaire
    Biotechnology Research Institute, Montreal, Quebec, Canada
    Structure 6:173-82. 1998
    ..Little is known, however, about the nature of this site or the identity of the active-site residues for this enzyme family...
  8. ncbi Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase
    D W Hum
    Department of Biochemistry, McGill University, Montreal, Canada
    J Biol Chem 263:15946-50. 1988
    ..A region was identified which probably serves as a link between these two major domains of the human enzyme. The synthetase domain contains two regions that are homologous to consensus sequences for an ATP-binding site...
  9. ncbi Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects
    F A Hol
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Clin Genet 53:119-25. 1998
    ..Our results so far provide no evidence for a major role of the methylenetetrahydrofolate-dehydrogenase (MTHFD) gene in NTD etiology...
  10. ncbi Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for variants in folate pathway genes MTHFR, MTHFD, MTRR, RFC1, and GCP2
    Min Shi
    Biology Department, University of Iowa, Iowa City, Iowa 52242, USA
    Birth Defects Res A Clin Mol Teratol 67:545-9. 2003
    ....
  11. ncbi Polymorphisms in the one-carbon metabolic pathway, plasma folate levels and colorectal cancer in a prospective study
    Jia Chen
    Departments of Community and Preventive Medicine, Mount Sinai School of Medicine, New York, NY 10029, USA
    Int J Cancer 110:617-20. 2004
    ..Cytosolic serine hydroxymethyltransferase (cSHMT), methylenetetrahydrofolate dehydrogenase (MTHFD1) and glutamate carboxypeptidase II (GCPII) are key genes involved in this pathway...
  12. ncbi MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae
    Anne Parle-McDermott
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    Am J Med Genet A 132:365-8. 2005
    This study examined the relationship between folate/homocysteine-related genetic polymorphisms: MTHFD1 1958G --> A (R653Q), MTHFR 677C --> T (A222V), MTHFR 1298A --> C (E429A), and risk of severe abruptio placentae...
  13. ncbi Relationship between polymorphism of methylenetetrahydrofolate dehydrogenase and congenital heart defect
    Jun Cheng
    Department of Nutrition and Food Hygiene, School of Public Health, Peking University, Beijing 100083, China
    Biomed Environ Sci 18:58-64. 2005
    To investigate the relationship between G1958A gene polymorphism of methylenetetrahydrofolate dehydrogenase (MTHFD) and occurrence of congenital heart disease (CHD) in North China.
  14. ncbi Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk
    Patrizia De Marco
    Unità Operativa di Neurochirurgia, Istituto G Gaslini, Largo G Gaslini 5, 16148 Genoa, Italy
    J Hum Genet 51:98-103. 2006
    ..Given its key role in folate metabolism, the methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) gene could represent an attractive candidate in NTD aetiology...
  15. ncbi Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population
    Anne Parle-McDermott
    School of Biochemistry and Immunology, Trinity College Dublin, Dublin, Ireland
    Eur J Hum Genet 14:768-72. 2006
    ..We previously identified the 1958G>A (R653Q) polymorphism of the trifunctional enzyme MTHFD1 (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate ..
  16. ncbi Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population
    A Mostowska
    Department of Biochemistry and Molecular Biology, University of Medical Sciences in Poznan, Poznan, Poland
    Clin Genet 69:512-7. 2006
    ..dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase (MTHFD1) and reduced folate carrier 1 (RFC1)...
  17. pmc Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions
    Abee L Boyles
    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Environ Health Perspect 114:1547-52. 2006
    ..Most studies addressed these genes individually, often with different populations providing conflicting results...
  18. ncbi Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism
    Ase Fredriksen
    LOCUS for Homocysteine and Related Vitamins, University of Bergen, Bergen, Norway
    Hum Mutat 28:856-65. 2007
    ..Asp919Gly); methionine synthase reductase (MTRR) c.66A>G (p.Ile22Met); methylenetetrahydrofolate dehydrogenase (MTHFD1) c.1958G>A (p.Arg653Gln); betaine homocysteine methyltransferase (BHMT) c.716G>A (known as 742G>A; p...
  19. pmc Genetic polymorphisms in one-carbon metabolism: associations with CpG island methylator phenotype (CIMP) in colon cancer and the modifying effects of diet
    Karen Curtin
    Department of Internal Medicine, University of Utah Health Sciences Center, 375 Chipeta Way, Suite A, Salt Lake City, UT 84108, USA
    Carcinogenesis 28:1672-9. 2007
    ..II (TCNII), methionine synthase (MTR), reduced folate carrier (RFC), methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), dihydrofolate reductase (DHFR) and alcohol dehydrogenase 3 (ADH3) were evaluated...
  20. ncbi Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence
    Victoria L Stevens
    Department of Epidemiology and Surveillance Research, American Cancer Society, Northeastern, Atlanta, GA 30329, USA
    Cancer Epidemiol Biomarkers Prev 16:1140-7. 2007
    ..methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthase [MTHFD1; odds ratio (OR), 1.40; 95% confidence interval (95% CI), 1.06-1...
  21. ncbi The methylenetetrahydrofolate dehydrogenase (MTHFD1) 1958G>A variant is not associated with spina bifida risk in the Dutch population
    I J M van der Linden
    Clin Genet 72:599-600. 2007
  22. doi The MTHFD1 gene is not involved in cleft lip with or without palate onset among the Italian population
    A Palmieri
    Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy
    Ann Hum Genet 72:297-9. 2008
    ..aim of this study was to evaluate the role of two polymorphisms of the methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) gene, the A1958G and the G401A variants, on the risk of CL/P in the Italian population...
  23. doi The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects
    Karen E Christensen
    Department of Pediatrics, McGill University Montreal Children s Hospital, Montreal, Quebec, Canada
    Hum Mutat 30:212-20. 2009
    Methylenetetrahydrofolate dehydrogenase)methenyltetrahydrofolate cyclohydrolase)formyltetrahydrofolate synthetase (MTHFD1) is a trifunctional enzyme that interconverts tetrahydrofolate (THF) derivatives for nucleotide synthesis...
  24. pmc No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk
    Victoria L Stevens
    Epidemiology and Surveillance Research, American Cancer Society, 250 Williams Street, Northwest, Atlanta, GA 30303 1002, USA
    Cancer Epidemiol Biomarkers Prev 17:3612-4. 2008
    ..Thus, our findings do not support the hypothesis that common genetic variation in one-carbon metabolism genes influences prostate cancer risk...
  25. pmc Analysis of the MTHFD1 promoter and risk of neural tube defects
    Nicola Carroll
    Dublin City University, Ireland
    Hum Genet 125:247-56. 2009
    Genetic variants in MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase/5,10-methenyltetrahydrofolate cyclohydrolase/ 10-formyltetrahydrofolate synthetase), an important folate metabolic enzyme, are associated with a number of common ..
  26. pmc 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
    Gary M Shaw
    Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford University School of Medicine, Stanford, CA, USA
    BMC Med Genet 10:49. 2009
    ..Investigations into genetic variation that influences transport and metabolism of folate will help fill this data gap. We focused on 118 SNPs involved in folate transport and metabolism...
  27. doi Polymorphic variants of folate metabolism genes and the risk of laryngeal cancer
    Łukasz Kruszyna
    Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland
    Mol Biol Rep 37:241-7. 2010
    ..dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase (MTHFD1); and methylenetetrahydrofolate reductase (MTHFR) in patients with larynx cancer (n = 131) and controls (n = 250)...
  28. doi Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis
    Simon M Collin
    Department of Social Medicine, University of Bristol, Canynge Hall, 39 Whatley Road, Bristol, BS8 2PS United Kingdom
    Cancer Epidemiol Biomarkers Prev 18:2528-39. 2009
    ..8 studies; 7,810 cases; 37,543 controls), MTRR A66G (rs1801394; 4 studies; 3,032 cases; 4,515 controls), MTHFD1 G1958A (rs2236225; 6 studies; 7,493 cases; 36,941 controls), SLC19A1/RFC1 G80A (rs1051266; 4 studies; 6,222 cases; ..
  29. doi Associations of folate and choline metabolism gene polymorphisms with orofacial clefts
    Adrianna Mostowska
    Department of Biochemistry and Molecular Biology, University of Medical Sciences, Poznan, Poland
    J Med Genet 47:809-15. 2010
    ..It has been reported that maternal nutritional factors are likely to play a major role in development of NCL/P in the embryo...
  30. pmc Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium
    Linda E Kelemen
    Department of Population Health Research, Alberta Health Services Cancer Care, 1331 29th Street Northwest, Calgary, Alberta T2N4N2, Canada
    Cancer Epidemiol Biomarkers Prev 19:1822-30. 2010
    ..We sought to replicate associations for DPYD rs1801265, DNMT3A rs13420827, MTHFD1 rs1950902, MTHFS rs17284990, and TYMS rs495139 with risk of ovarian carcinoma overall and to use the large sample ..
  31. doi Xenobiotic and folate pathway gene polymorphisms and risk of childhood acute lymphoblastic leukaemia in Javanese children
    Jason Yong Sheng Chan
    Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
    Hematol Oncol 29:116-23. 2011
    ..GSTT1-present/null, GSTP1 1578A > G, NQO1 609C > T, MTHFR 677C > T, MTHFR 1298A > C, MTHFD1 1958G > A, 3'-TYMS 1494 6bp-deletion/insertion, 5'-TYMS 28bp-tandem repeats, and SLC19A1 80G > A) in a ..
  32. doi Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population
    Andreia Bufalino
    Department of Oral Diagnosis, School of Dentistry, State University of Campinas, Piracicaba, Sao Paulo, Brazil
    Birth Defects Res A Clin Mol Teratol 88:980-6. 2010
    ..The aim of this study was to determine the involvement of polymorphic variants in four genes (MTHFR, MTHFD1, MTR, and SLC19A1) that encode proteins related to folic acid metabolism in the women with susceptibility for ..
  33. doi Polymorphisms in folate-metabolizing genes and risk of non-Hodgkin's lymphoma
    Alexandra S Weiner
    Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, Russia
    Leuk Res 35:508-15. 2011
    ..A significant association with NHL was observed only for MTHFD1 G1958A (allele G OR=1.382, P=0.05; genotype GA OR=2.316, P=0.01; genotype GG OR=2.153, P=0.03)...
  34. pmc Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study
    Daniela Neagos
    Carol Davila University of Medicine and Pharmacy, Department of Genetics, Bucharest, Romania
    J Med Life 3:454-7. 2010
    ..Our results show that the frequencies of MTHFD1 alleles, as well as the frequencies of MTHFD11958 genotypes (GG, GA, AA, GA+AA) do not correlate with DS ..
  35. doi Folate and choline metabolism gene variants and development of uterine cervical carcinoma
    Adrianna Mostowska
    Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, 6 Swiecickiego St, 60 781 Poznan, Poland
    Clin Biochem 44:596-600. 2011
    ..The aim of this study was to evaluate the possibility that polymorphic variants of genes that may affect DNA methylation status are associated with the risk of cervical cancer in the Polish population...
  36. ncbi Head and neck carconogenesis: impact of MTHFD1 G1958A polymorphism
    Lidia Maria Rebolho Batista da Silva
    Unit of Research in Genetics and Molecular Biology UPGEM, Medical College of São José do Rio Preto FAMERP, Sao Jose do Rio Preto, SP, Brazil
    Rev Assoc Med Bras (1992) 57:194-9. 2011
    To investigate the MTHFD1 G1958A polymorphism involved in the folate metabolism as a risk for head and neck cancer, and to find the association of the polymorphism with the risk factors and clinical and histopathological characteristics.
  37. doi Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China
    Y P Liao
    Department of Cell Biology, Bengbu Medical College, Bengbu, China
    Genet Mol Res 13:1764-73. 2014
    We examined whether polymorphisms in the methylenetetrahydrofolate dehydrogenase (MTHFD) and transcobalamin (TC) genes, which are involved in folate metabolism, affect maternal risk for Down syndrome...
  38. pmc A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Res
    Lawrence C Brody
    Genome Technology Branch, National Human Genome Research Institute, Bethesda, MD, USA
    Am J Hum Genet 71:1207-15. 2002
    ..methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase (MTHFD1) for an association with NTDs in the Irish population...
  39. ncbi A pseudogene on the X chromosome for the human trifunctional enzyme MTHFD (methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase)
    C Italiano
    Department of Pediatrics, McGill University, Montreal Children s Hospital Research Institute, Montreal, Quebec, Canada
    Genomics 10:1073-4. 1991
    The human trifunctional folate-dependent protein MTHFD has been mapped to chromosome 14q24 and to the X chromosome was identified by screening an X-chromosome-specific library...
  40. pmc Dominant defects in Drosophila eye pigmentation resulting from a euchromatin-heterochromatin fusion gene
    Y S Rong
    Department of Biology, University of Utah, Salt Lake City, Utah 84112, USA
    Genetics 150:1551-66. 1998
    ..a gene that encodes a Drosophila homolog of the trifunctional enzyme methylenetetrahydrofolate dehydrogenase (MTHFD; E.C.1.5.1.5, E.C.3.5. 4.9, E.C.6.3.4.3). This enzyme produces a cofactor that is utilized in purine biosynthesis...
  41. ncbi Genomic imbalances in drug-resistant T-cell acute lymphoblastic CEM leukemia cell lines
    Thomas Efferth
    Virtual Campus Rhineland Palatinate, P O Box 4380, 55033, Mainz, Germany
    Blood Cells Mol Dis 29:1-13. 2002
    ..2). These two loci harbor the methylenetetrahydrofolate dehydrogenase (MTHFD1) and 5'-methyltetrahdrofolate-homocysteine methyltransferase reductase (MTRR) genes, both of which are involved in ..
  42. ncbi Site-directed mutagenesis of a highly conserved aspartate in the putative 10-formyl-tetrahydrofolate binding site of yeast C1-tetrahydrofolate synthase
    T J Kirksey
    Department of Chemistry and Biochemistry, University of Texas at Austin 78712, USA
    Arch Biochem Biophys 333:251-9. 1996
    ..Thus, these results suggest that the 10-formyl-THF binding site differs significantly between the GAR transformylase and 10-formyl-THF synthetase families, and that the conserved aspartate plays different roles in the two enzymes...
  43. ncbi Investigating the regulation of one-carbon metabolism in Arabidopsis thaliana
    Rong Li
    Department of Biology, University of Saskatchewan, 112 Science Place, Saskatoon, Saskatchewan, S7N 5E2 Canada
    Plant Cell Physiol 44:233-41. 2003
    ....
  44. ncbi Site-directed mutagenesis of yeast C1-tetrahydrofolate synthase: analysis of an overlapping active site in a multifunctional enzyme
    C K Barlowe
    Clayton Foundation Biochemical Institute, Department of Chemistry, University of Texas, Austin 78712
    Biochemistry 28:2099-106. 1989
    ..A double mutant, C144S/C257S, results in catalytic properties roughly multiplicative of the individual mutations.(ABSTRACT TRUNCATED AT 250 WORDS)..
  45. ncbi The folate metabolic enzyme ALDH1L1 is restricted to the midline of the early CNS, suggesting a role in human neural tube defects
    Todd E Anthony
    Laboratory of Molecular Biology, Howard Hughes Medical Institute, Rockefeller University, New York, New York, USA
    J Comp Neurol 500:368-83. 2007
    ..Midline restriction is not a general property of this branch of folate metabolism, as MTHFD1 displays broad and apparently ubiquitous expression throughout the neural tube...
  46. pmc DNA hypermethylation in the normal colonic mucosa of patients with colorectal cancer
    K Kawakami
    Department of Surgery, Kanazawa University School of Medicine, Takaramachi 13 1, Kanazawa 920 8641, Japan
    Br J Cancer 94:593-8. 2006
    ..Genotyping was carried out for polymorphisms in the MTHFR, TS, MS, MTHFD1 and DNMT3b genes...
  47. doi Insights into prevention of human neural tube defects by folic acid arising from consideration of mouse mutants
    Muriel J Harris
    Department of Medical Genetics, University of British Columbia, Vancouver, British Coloumbia, Canada
    Birth Defects Res A Clin Mol Teratol 85:331-9. 2009
    ..Among folate-pathway mutants, neural tube closure is normal in Cbs, Folr2, Mthfd1, Mthfd2, Mthfr, and Shmt1 mutants. Embryos die by midgestation in Folr1, Mtr, Mtrr, and RFC1 mutants...
  48. ncbi Common mutations at the homocysteine metabolism pathway and pediatric stroke
    N Akar
    Pediatric Molecular Genetics and Pediatric Neurology, Department of Ankara University, Ankara, Turkey
    Thromb Res 102:115-20. 2001
    ..of methylene tetrahydrofolate reductase (MTHFR) 677 C-T, MTHFR 1298 A-C, methylene tetrahydrofolate dehydrogenase (MTHFD) 1958 G-A and methionine synthase reductase (MTRR) 66 A-G alleles...
  49. pmc Function of yeast cytoplasmic C1-tetrahydrofolate synthase
    J M Song
    Department of Molecular and Cell Biology, University of California, Berkeley 94720
    Proc Natl Acad Sci U S A 90:2636-40. 1993
    ..These results suggest that the catalytic activity of the C1-THF synthase is involved in purine biosynthesis...
  50. pmc Mitochondrial C1-tetrahydrofolate synthase (MTHFD1L) supports the flow of mitochondrial one-carbon units into the methyl cycle in embryos
    Schuyler T Pike
    Department of Chemistry and Biochemistry, University of Texas, Austin, Texas 78712, USA
    J Biol Chem 285:4612-20. 2010
    ..The spatial pattern of MTHFD1L expression was virtually indistinguishable from that of MTHFD2 and MTHFD1 (cytoplasmic C(1)-THF synthase) in embryonic day 9.5 mouse embryos, suggesting coordinated regulation...
  51. ncbi Deficient synthesis of MTHFD, a trifunctional folate-dependent enzyme, in the CHO Ade E mutant
    A Mascisch
    Department of Pediatrics and Biology, McGill University Montreal Children s Hospital Research Institute, Quebec
    Somat Cell Mol Genet 17:391-8. 1991
    b>MTHFD is a folate-dependent trifunctional protein comprised of three activities: N5,N10-methylenetetrahydrofolate dehydrogenase, N5,N10-methenyltetrahydrofolate cyclohydrolase, and N10-formyltetrahydrofolate synthetase...
  52. pmc In vivo analysis of folate coenzymes and their compartmentation in Saccharomyces cerevisiae
    J B McNeil
    Department of Biology, York University, Toronto, Ontario, Canada
    Genetics 142:371-81. 1996
    ..Inactivation of SHM1, SHM2 and ADE3 is required to render yeast auxotrophic for TMP and methionine, suggesting that TMP synthesized in mitochondria may be available to the cytoplasmic compartment...
  53. pmc Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls
    Priya Prasannan
    Department of Chemistry and Biochemistry, Institute for Cellular and Molecular Biology, University of Texas, Austin, Texas 78712 0165, USA
    J Biol Chem 278:43178-87. 2003
    ..Yeast cells expressing the full-length human cDNA exhibited elevated 10-formyl-THF synthetase activity, confirming its identification as the human mitochondrial C1-THF synthase...
  54. ncbi Association between HIC1 and RASSF1A promoter hypermethylation with MTHFD1 G1958A polymorphism and clinicopathological features of breast cancer in Iranian patients
    Mozhgan Rasti
    Dept of Biochemistry, Medical School, Shiraz University of Medical Sciences, Shiraz, Iran
    Iran Biomed J 13:199-206. 2009
    ..of aberrant methylation of HIC1 and RASSF1A gene promoters and their association with methylene tetrahydrofolate dehydrogenase (MTHFD1) G1958A polymorphism and major clinical and pathological features of breast cancer in Iranian women.
  55. pmc Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women
    Carolyn M Summers
    Centers for Cancer Pharmacology, Pharmacogenetics, and Excellence in Environmental Toxicology, Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Birth Defects Res A Clin Mol Teratol 88:679-88. 2010
    ..Low folate and high homocysteine (Hcy) concentrations are associated with pregnancy-related pathologies such as spina bifida. Polymorphisms in folate/Hcy metabolic enzymes may contribute to this potentially pathogenic biochemical phenotype...
  56. pmc Dietary and genetic manipulations of folate metabolism differentially affect neocortical functions in mice
    J A Ash
    Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853, United States
    Neurotoxicol Teratol 38:79-91. 2013
    ..manipulations of folate metabolism on neocortical functions in mice, modeling a common genetic variant in the MTHFD1 gene in humans...
  57. doi Association of SNPs in genes involved in folate metabolism with the risk of congenital heart disease
    Benjing Wang
    Center for Reproduction and Genetics, Nanjing Medical University Affiliated Suzhou Hospital, Suzhou, Jiangsu Province 215002, China
    J Matern Fetal Neonatal Med 26:1768-77. 2013
    ..To investigate the association of 12 single nucleotide polymorphisms (SNPs) in folate metabolic genes with congenital heart disease (CHD)...
  58. pmc Geographical and ethnic distribution of single nucleotide polymorphisms within genes of the folate/homocysteine pathway metabolism
    Aristea Binia
    Nutrition and Health Research, Nestle Research Center, Lausanne, Switzerland
    Genes Nutr 9:421. 2014
    ..The MTHFD1 G1958A AA risk genotype was also enriched in Mexican Mestizos and Amerindians (frequency: 34 and 58 %, ..
  59. doi [G894T (NOS3) and G1958A (MTHFD1) gene polymorphisms and risk of ischemic heart disease in Yucatan, Mexico]
    Igrid García-González
    Laboratorio de Genetica, Centro de Investigaciones Regionales Dr Hideyo Noguchi CIR, Universidad Autonoma de Yucatan, Merida, Mexico Electronic address
    Clin Investig Arterioscler 27:64-73. 2015
    ..The aim of this study was to determine the possible association between these polymorphisms and ischemic heart disease in patients from Southern of Mexico (Yucatán)...
  60. pmc Relationships among folate, alcohol consumption, gene variants in one-carbon metabolism and p16INK4a methylation and expression in healthy breast tissues
    Adana A Llanos
    Division of Population Sciences, The Ohio State University Comprehensive Cancer Center, Columbus, OH 43201, USA, Department of Epidemiology, RBHS School of Public Health and Rutgers Cancer Institute of New Jersey, Rutgers University, New Brunswick, NJ 08903, USA
    Carcinogenesis 36:60-7. 2015
    ..06). Genetic variation in MTRR (rs1801394) and MTHFD1 (rs1950902) was associated with higher p16 (INK4a) promoter methylation (OR = 2.66, 95% CI: 1.11-6.42 and OR = 2...
  61. doi Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment
    P Burda
    Division of Metabolism and Children s Research Center, University Children s Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland
    J Inherit Metab Dis 38:863-72. 2015
    In the folate cycle MTHFD1, encoded by MTHFD1, is a trifunctional enzyme containing 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase activity...
  62. pmc Polymorphisms in MTHFD1 Gene and Susceptibility to Neural Tube Defects: A Case-Control Study in a Chinese Han Population with Relatively Low Folate Levels
    Jian Wu
    Section of Physiology and Biochemistry of Exercise, The Capital Institute of Physical Education of China, Beijing, China mainland
    Med Sci Monit 21:2630-7. 2015
    The polymorphism of methylenetetrahydrofolate dehydrogenase (MTHFD1) has been reported as a risk factor for neural tube defects (NTDs)...
  63. ncbi Molecular Basis of Familial and Sporadic Alzheimer's Disease
    Jolanta Dorszewska
    Laboratory of Neurobiology, Department of Neurology, Poznan University of Medical Sciences, 49, Przybyszewskiego st, 60 355 Poznan, Poland
    Curr Alzheimer Res 13:952-63. 2016
    ..related to the immunological cause (TREM2) of the disease are a disorder of the lipid (ABCA1, ABCA7) or biothiol (MTHFD1) metabolism and of the transport of metabolites (BIN1)...
  64. doi Murine MTHFD1-synthetase deficiency, a model for the human MTHFD1 R653Q polymorphism, decreases growth of colorectal tumors
    Nancy Lévesque
    Departments of Human Genetics and Pediatrics, The Research Institute of the McGill University Health Centre, McGill University, Montreal, Quebec, Canada
    Mol Carcinog . 2016
    ..R653Q variant (∼20% homozygosity in Caucasians) in the synthetase domain of the folate-metabolizing enzyme MTHFD1 reduces purine synthesis...
  65. ncbi Moderate folic acid supplementation and MTHFD1-synthetase deficiency in mice, a model for the R653Q variant, result in embryonic defects and abnormal placental development
    Karen E Christensen
    Departments of Human Genetics and
    Am J Clin Nutr 104:1459-1469. 2016
    ..Common polymorphisms in folate genes, such as methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase (MTHFD1) R653Q, may modulate the effects of elevated folic acid intake.
  66. ncbi Purification, immunoassay, and tissue distribution of rat C1-tetrahydrofolate synthase
    W D Cheek
    Clayton Foundation Biochemical Institute, Department of Chemistry, University of Texas, Austin 78712
    Arch Biochem Biophys 270:504-12. 1989
    ..This apparent masking of enzyme activity was observed in all tissues, but to varying degrees. These results emphasize the advantages of an immunoassay in studying the regulation of C1-THF synthase...
  67. ncbi Annealing control primer system identifies differentially expressed genes in blastocyst-stage porcine parthenotes
    Hwa Young Lee
    Department of Animal Science, Chungbuk National University, Cheongju, Chungbuk 361 763, Korea
    Zygote 14:71-80. 2006
    ..Of the known genes, six genes [renin-binding protein (RNBP), BMDP, solute carrier family 25 (SLC25A6), MTHFD1, TRK-fused gene (TFG), spermidine synthase (SRM)] were selected and their stage-specific expression levels in ..
  68. doi Gene-gene interactions in folate and adenosine biosynthesis pathways affect methotrexate efficacy and tolerability in rheumatoid arthritis
    Thierry Dervieux
    Cypress Bioscience, San Diego, California 92121, USA
    Pharmacogenet Genomics 19:935-44. 2009
    ....
  69. doi Vitamins B2 and B6 and genetic polymorphisms related to one-carbon metabolism as risk factors for gastric adenocarcinoma in the European prospective investigation into cancer and nutrition
    Simone J P M Eussen
    LOCUS for Homocysteine and Related Vitamins, Department of Pharmacology, Institute of Medicine, University of Bergen, and Haukeland University Hospital, Bergen, Norway
    Cancer Epidemiol Biomarkers Prev 19:28-38. 2010
    ..In summary, results from this large European cohort study showed an inverse association between vitamin B2 and GC risk, which is borderline significant, and a significant inverse association between vitamin B6 and GC risk...
  70. doi Association analysis of CbetaS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer's disease in Chinese
    Xiu Hua Bi
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, 100005 Beijing, People s Republic of China
    J Neural Transm (Vienna) 117:499-503. 2010
    ..genes, cystathionine beta-synthase gene (CbetaS) and 5, 10-methylenetetrahydrofolate dehydrogenase gene (MTHFD1), with sporadic AD...
  71. doi Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients
    S A Owen
    Arthritis Research UK Epidemiology Unit, Manchester Academic Health Sciences Centre, The University of Manchester, Manchester, UK
    Pharmacogenomics J 13:227-34. 2013
    ..polymorphisms (SNPs) spanning 10 methotrexate (MTX) pathway genes, namely AMPD1, ATIC, DHFR, FPGS, GGH, ITPA, MTHFD1, SHMT1, SLC19A1 (RFC) and TYMS on the outcome of MTX treatment in a UK rheumatoid arthritis (RA) patient cohort...
  72. doi Severe combined immunodeficiency resulting from mutations in MTHFD1
    Michael D Keller
    Children s Hospital of Philadelphia, 3550 Market St, 3rd Floor, Philadelphia, PA 19104, USA
    Pediatrics 131:e629-34. 2013
    ..Whole exome sequencing identified compound heterozygous mutations in the MTHFD1 gene, which encodes a trifunctional protein essential for processing of single-carbon folate derivatives...
  73. doi Strain-dependent dysregulation of one-carbon metabolism in male mice is associated with choline- and folate-deficient diet-induced liver injury
    Igor P Pogribny
    Division of Biochemical Toxicology, National Center for Toxicological Research, U S Food and Drug Administration, Jefferson, AR 72079, USA
    FASEB J 27:2233-43. 2013
    ..reductase (Mthfr), adenosyl-homocysteinase (Ahcy), and methylenetetrahydrofolate dehydrogenase 1 (Mthfd1), was observed...
  74. pmc Association of methylenetetrahydrofolate dehydrogenase 1 polymorphisms with cancer: a meta-analysis
    Hongtuan Zhang
    National Key Clinical Specialty of Urology, Second Affiliated Hospital of Tianjin Medical University, Tianjin Key Institute of Urology, Tianjin, China
    PLoS ONE 8:e69366. 2013
    ..the association between single-nucleotide polymorphisms (SNPs) of the methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) and cancer risk report conflicting results...
  75. pmc Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis
    Orsolya Lautner-Csorba
    Department of Genetics, Cell and Immunobiology, Semmelweis University, Budapest, Hungary
    PLoS ONE 8:e69843. 2013
    ..After correction for multiple testing, two associations remained significant. The genotype distribution of the MTHFD1 rs1076991 differed significantly between the ALL and control population...
  76. doi MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the Brazilian population
    Sibele Nascimento de Aquino
    Department of Oral Diagnosis, School of Dentistry, State University of Campinas, Piracicaba, Sao Paulo, Brazil
    Birth Defects Res A Clin Mol Teratol 100:30-5. 2014
    Polymorphisms within the MTHFR (rs2274976) and MTHFD1 (rs2236225) genes were previously associated with maternal susceptibility for having an offspring with nonsyndromic cleft lip with or without cleft palate (NSCL/P) in the Brazilian ..
  77. pmc Quantitative flux analysis reveals folate-dependent NADPH production
    Jing Fan
    1 Department of Chemistry and Lewis Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey 08540, USA 2
    Nature 510:298-302. 2014
    ..of its functional significance was undertaken through knockdown of methylenetetrahydrofolate dehydrogenase (MTHFD) genes...
  78. pmc Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis
    Jianxin Jiang
    Research Center for Translational Medicine, East Hospital, Tongji University School of Medicine, Shanghai, China Department of Neurosurgery, East Hospital, Tongji University School of Medicine, Shanghai, China
    PLoS ONE 9:e101169. 2014
    The methylenetetrahydrofolate dehydrogenase (MTHFD1) gene, as one of the key genes involved in the folate pathway, has been reported to play a critical role in the pathogenesis of neural tube defects (NTDs)...
  79. doi Association study of MTHFD1 coding polymorphisms R134K and R653Q with migraine susceptibility
    Heidi G Sutherland
    Genomics Research Centre, Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, QLD, Australia
    Headache 54:1506-14. 2014
    ..investigate whether two non-synonymous single nucleotide polymorphisms (SNPs), rs1950902 (C401T; R134K) and rs2236225 (G1958A; R653Q), in MTHF dehydrogenase (MTHFD1) are associated with migraine in an Australian case-control population.
  80. pmc Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis
    Martha S Field
    Division of Nutritional Sciences and
    Proc Natl Acad Sci U S A 112:400-5. 2015
    An inborn error of metabolism associated with mutations in the human methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) gene has been identified...
  81. doi Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women
    Ozlem Izci Ay
    1 Department of Medical Biology and Genetics, Faculty of Medicine, Mersin University, Mersin, Turkey
    Genet Test Mol Biomarkers 19:191-7. 2015
    ..A1298C (rs1801131), methionine synthase reductase (MTRR) A66G (rs1801394), methylenetetrahydrofolate dehydrogenase (MTHFD1) G1958A (rs2236225), reduced folate carrier (RFC1) A80G (rs1051266), and cystathionine β-synthase (CBS) 844ins68.
  82. doi Association between SNPs in genes involved in folate metabolism and preterm birth risk
    B J Wang
    Department of Gynaecology and Obstetrics, Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, China
    Genet Mol Res 14:850-9. 2015
    ..Twelve SNPs (CBS-C699T, DHFR-c594+59del19, GST01-C428T, MTHFD-G1958A, MTHFR-C677T, MTHFR-A1298C, MTR-A2756G, MTRR-A66G, NFE2L2-ins1+C11108T, RFC1-G80A, TCN2-C776G, and TYMS-..
  83. doi B vitamin treatments modify the risk of myocardial infarction associated with a MTHFD1 polymorphism in patients with stable angina pectoris
    Y P Ding
    Department of Clinical Science, University of Bergen, Bergen 5021, Norway Electronic address
    Nutr Metab Cardiovasc Dis 26:495-501. 2016
    Methylenetetrahydrofolate dehydrogenase (MTHFD1) catalyzes three sequential reactions that metabolize derivatives of tetrahydrofolate (THF) in folate-dependent one-carbon metabolism...
  84. pmc The RFC1 80G>A, among Common One-Carbon Polymorphisms, Relates to Survival Rate According to DNA Global Methylation in Primary Liver Cancers
    Sara Moruzzi
    Department of Medicine, University of Verona School of Medicine, Verona, Italy
    PLoS ONE 11:e0167534. 2016
    ..Forty-seven primary liver cancer patients were genotyped for ten polymorphisms: DHFR 19bp ins/del, TS 2rpt-3rpt, MTHFD1 1958G>A, MTHFR 677C>T, MTR 2756A>G, MTRR 66A>G, RFC1 80G>A, SHMT1 1420C>T, BHMT 716 A>G, TC ..
  85. doi Update and new concepts in vitamin responsive disorders of folate transport and metabolism
    David Watkins
    The Hess B and Diane Finestone Laboratory in Memory of Jacob and Jenny Finestone, and Department of Human Genetics, McGill University Health Centre, 1650 Cedar Avenue, Room L3 319, Montreal, QC, Canada
    J Inherit Metab Dis 35:665-70. 2012
    ..It is caused by mutations in the MTHFD1 gene.
  86. pmc Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects
    Faith Pangilinan
    Molecular Pathogenesis Section, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    BMC Med Genet 13:62. 2012
    ..Gene variants in the folate metabolic pathway (e.g., MTHFR rs1801133 (677 C > T) and MTHFD1 rs2236225 (R653Q)) have been found to increase NTD risk...
  87. pmc Maternal and infant gene-folate interactions and the risk of neural tube defects
    Analee J Etheredge
    Texas A and M System Health Science Center Institute of Biosciences and Technology, Houston, USA
    Am J Med Genet A 158:2439-46. 2012
    ..49, 0.96). When there was low maternal folate intake, risk of NTDs was significantly increased for infant MTHFD1 SNPs rs2236224, rs2236225, and rs11627387 (OR = 1.58, 80% CI: 0.99, 2.51; OR = 1.53, 80% CI: 0.95, 2.47; OR = 4...
  88. pmc Investigation of homocysteine-pathway-related variants in essential hypertension
    Javed Y Fowdar
    Genomics Research Centre, Griffith Health Institute, Gold Coast Campus, Griffith University, Southport, Qld 4222, Australia
    Int J Hypertens 2012:190923. 2012
    ..synthase reductase gene (MTRR A66G), and one polymorphism in the methylenetetrahydrofolate dehydrogenase 1 gene (MTHFD1 G1958A) and assessed their association with hypertension using chi-square analysis...
  89. pmc Reduced MTHFD1 activity in male mice perturbs folate- and choline-dependent one-carbon metabolism as well as transsulfuration
    Martha S Field
    Division of Nutritional Science, Cornell University, Ithaca, NY, USA
    J Nutr 143:41-5. 2013
    ..These pathways have been shown to be sensitive to variation within the Mthfd1 gene, which codes for a folate-metabolizing enzyme responsible for generating 1-carbon (1-C)-substituted folate ..
  90. ncbi 13C NMR detection of folate-mediated serine and glycine synthesis in vivo in Saccharomyces cerevisiae
    L B Pasternack
    Department of Chemistry and Biochemistry, University of Texas, Austin 78712
    Biochemistry 31:8713-9. 1992
    ..These results suggest that when formate is the one-carbon donor, assimilation is primarily cytoplasmic, whereas when serine serves as one-carbon donor, considerable metabolism occurs via mitochondrial pathways...
  91. ncbi Immunolocalization of C1-tetrahydrofolate synthase in the rat kidney
    D R Appling
    Clayton Foundation Biochemical Institute, Department of Chemistry, University of Texas, Austin 78712
    Biochem Biophys Res Commun 168:625-30. 1990
    ..The ascending thick limb of Henle's loop was also positive. Glomeruli and the inner medulla showed no staining for C1-THF synthase...
  92. pmc Cloning of three human multifunctional de novo purine biosynthetic genes by functional complementation of yeast mutations
    D Schild
    Cell and Molecular Biology Division, Lawrence Berkeley Laboratory, Berkeley, CA 94720
    Proc Natl Acad Sci U S A 87:2916-20. 1990
    ..The cDNA that complemented ade3 (formyltetrahydrofolate synthetase) is different from the recently isolated human cDNA encoding this enzyme and instead appears to encode a related mitochondrial enzyme...
  93. pmc Molecular genetic analysis of Saccharomyces cerevisiae C1-tetrahydrofolate synthase mutants reveals a noncatalytic function of the ADE3 gene product and an additional folate-dependent enzyme
    C K Barlowe
    Department of Chemistry and Biochemistry, Clayton Foundation Biochemical Institute, University of Texas, Austin 78712
    Mol Cell Biol 10:5679-87. 1990
    ....
  94. pmc Nucleotide sequence of the human NAD-dependent methylene tetrahydrofolate dehydrogenase-cyclohydrolase
    K G Peri
    Department of Biochemistry, McGill University, Montreal, Canada
    Nucleic Acids Res 17:8853. 1989
  95. ncbi A general method for generation and analysis of defined mutations in enzymes involved in a tetrahydrofolate-interconversion pathway
    C K Barlowe
    Clayton Foundation Biochemical Institute, University of Texas, Austin 78712
    Biofactors 2:57-63. 1989
    ..The feasibility and versatility of the method is shown with the yeast ADE3 gene encoding the cytoplasmic C1-THF synthase and the gene encoding the monofunctional 10-formyl-THF synthetase from Clostridium acidiurici...
  96. ncbi Methylenetetrahydrofolate dehydrogenases in normal and transformed mammalian cells
    R E MacKenzie
    Department of Biochemistry, McGill University, Montreal, P Q, Canada
    Adv Enzyme Regul 27:31-9. 1988
    ....
  97. ncbi Nitrous oxide exposure reduces hepatic C1-tetrahydrofolate synthase expression in rats
    C K Barlowe
    Clayton Foundation Biochemical Institute, Department of Chemistry, University of Texas 78712
    Biochem Biophys Res Commun 157:245-9. 1988
    ..These results suggest that perturbations of hepatic THF pools by N2O affect the level of C1-THF synthase expression at a translational or pretranslational level...
  98. ncbi NAD-dependent methylenetetrahydrofolate dehydrogenase is expressed by immortal cells
    N R Mejia
    J Biol Chem 260:14616-20. 1985
    ..Its physiological role is unknown, but it is proposed that it promotes purine synthesis and perhaps contributes to the methionine dependence and rapid growth observed for many established lines...
  99. ncbi Whole-cell detection by 13C NMR of metabolic flux through the C1-tetrahydrofolate synthase/serine hydroxymethyltransferase enzyme system and effect of antifolate exposure in Saccharomyces cerevisiae
    L B Pasternack
    Department of Chemistry and Biochemistry, University of Texas, Austin 78712
    Biochemistry 33:7166-73. 1994
    ..0 +/- 1.2 microM/min relative to an external standard of serine in D2O. The extracellular formate concentration at half-maximal flux was determined to be 900 microM.(ABSTRACT TRUNCATED AT 250 WORDS)..
  100. ncbi Single-stranded DNA binding activity of C1-tetrahydrofolate synthase enzymes
    W P Wahls
    Fred Hutchinson Cancer Research Center, Seattle, Washington 98104
    J Biol Chem 268:23792-8. 1993
    ....

Research Grants11

  1. Patrick J Stover; Fiscal Year: 2016
    ..The three related and overlapping areas to be investigated are: Aim I. Determine the contributions of the enzymes MTHFD1 and KDM1 to vitamin B12- and folate-mediated 1C metabolism in the nucleus...
  2. HUMAN MITOCHONDRIAL CI-TETRAHYDROFOLATE SYNTHASE
    DEAN APPLING; Fiscal Year: 2005
    ..abstract_text> ..
  3. ORGANIZATION OF ONE-CARBON METABOLISM--A YEAST MODEL
    DEAN APPLING; Fiscal Year: 1999
    ....
  4. Folate Polymorphisms, Dietary Folate and Prostate Cancer
    Victoria Stevens; Fiscal Year: 2005
    ..The results of this study are expected to indicate the importance of folate for prostate cancer and whether changing folate consumption can modify the risk associated with genetic variants in the pathway for folate metabolism. ..
  5. GENE-ENVIRONMENT INTERACTION AND COLON CARCINOGENESIS
    Jia Chen; Fiscal Year: 2002
    ....
  6. FOLATE PATHWAY GENES AND RISK FOR OROFACIAL CLEFTS
    Gary Shaw; Fiscal Year: 2002
    ..abstract_text> ..
  7. Diethanolamine, brain development and adult memory
    Steven Zeisel; Fiscal Year: 2006
    ..abstract_text> ..
  8. NUTRITIONAL BIOCHEMISTRY AND EPIDEMIOLOGY OF CANCER
    Steven Zeisel; Fiscal Year: 2006
    ..We are requesting two postdoctoral and six predoctoral trainee positions each year for this purpose. ..
  9. Gene-nutrient Etiologies of Neural Tube Defects
    Gary M Shaw; Fiscal Year: 2010
    ..Because NTDs result in substantial morbidity as well as high emotional and economic costs, further scientific understanding leading to possible prevention would greatly benefit society. ..
  10. Dietary Methyl Content, Epigenetics and Breast Cancer
    Jia Chen; Fiscal Year: 2010
    ..To identify the factors that determine the patterns of methylation can provide evidence for the mechanisms of the disease as well as identify at-risk populations in which appropriate diet-based intervention can be provided. ..
  11. Gene and Nutrient Etiologies of Human Heart Defects
    Gary M Shaw; Fiscal Year: 2010
    ..Because these defects result in substantial morbidity as well as high emotional and economic costs, further scientific understanding leading to possible prevention would greatly benefit society. ..