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Disease on EC 6.3.3.2 - 5-formyltetrahydrofolate cyclo-ligase

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DISEASE
TITLE OF PUBLICATION
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5-formyltetrahydrofolate cyclo-ligase deficiency
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia.
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis.
Mthfd1 is a modifier of chemically induced intestinal carcinogenesis.
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.
Abortion, Spontaneous
The MTHFD1 c.1958 G>A polymorphism and recurrent spontaneous abortions.
Abruptio Placentae
MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae.
Adenocarcinoma
One carbon metabolism in human lung cancer.
Alzheimer Disease
Association analysis of CbetaS 844ins68 and MTHFD1 G1958A polymorphisms with Alzheimer's disease in Chinese.
Anemia, Macrocytic
A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia.
Anemia, Megaloblastic
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis.
Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism.
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.
Anencephaly
Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring.
Angina, Stable
B vitamin treatments modify the risk of myocardial infarction associated with a MTHFD1 polymorphism in patients with stable angina pectoris.
Arthritis, Rheumatoid
Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients.
Atherosclerosis
The impact of 5,10-methenyltetrahydrofolate synthetase polymorphism on diabetic nephropathy in the taiwanese population.
Atypical Hemolytic Uremic Syndrome
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Autoimmune Diseases
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Breast Neoplasms
A candidate CpG SNP approach identifies a breast cancer associated ESR1-SNP.
Association between HIC1 and RASSF1A promoter hypermethylation with MTHFD1 G1958A polymorphism and clinicopathological features of breast cancer in Iranian patients.
Structural basis for the inhibition of human 5,10-methenyltetrahydrofolate synthetase by N10-substituted folate analogues.
The effect of folate-related SNPs on clinicopathological features, response to neoadjuvant treatment and survival in pre- and postmenopausal breast cancer patients.
Burkitt Lymphoma
Identification and characterization of human mitochondrial methenyltetrahydrofolate synthetase activity.
Carcinogenesis
Mthfd1 is a modifier of chemically induced intestinal carcinogenesis.
Carcinoma
Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium.
Methylenetetrahydrofolate Dehydrogenase 1 (MTHFD1) is Underexpressed in Clear Cell Renal Cell Carcinoma Tissue and Transfection and Overexpression in Caki-1 Cells Inhibits Cell Proliferation and Increases Apoptosis.
MTHFD1 G1958A, BHMT G742A, TC2 C776G and TC2 A67G polymorphisms and head and neck squamous cell carcinoma risk.
Carcinoma, Hepatocellular
Overexpression of MTHFD1 in hepatocellular carcinoma predicts poorer survival and recurrence.
Carcinoma, Renal Cell
Methylenetetrahydrofolate Dehydrogenase 1 (MTHFD1) is Underexpressed in Clear Cell Renal Cell Carcinoma Tissue and Transfection and Overexpression in Caki-1 Cells Inhibits Cell Proliferation and Increases Apoptosis.
Carcinoma, Squamous Cell
MTHFD1 G1958A, BHMT G742A, TC2 C776G and TC2 A67G polymorphisms and head and neck squamous cell carcinoma risk.
Cholangiocarcinoma
A redox probe screens MTHFD1 as a determinant of gemcitabine chemoresistance in cholangiocarcinoma.
Cleft Lip
A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile.
Microdeletion of chromosome 15q24.3-25.2 and orofacial clefting.
MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the Brazilian population.
Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population.
The MTHFD1 gene is not involved in cleft lip with or without palate onset among the Italian population.
Cleft Palate
A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile.
Is MTHFD1 polymorphism rs 2236225 (c.1958G>A) associated with the susceptibility of NSCL/P? A systematic review and meta-analysis.
MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the Brazilian population.
Colonic Neoplasms
One-carbon genetic variants and the role of MTHFD1 1958G>A in liver and colon cancer risk according to global DNA methylation.
Colorectal Neoplasms
Murine MTHFD1-synthetase deficiency, a model for the human MTHFD1 R653Q polymorphism, decreases growth of colorectal tumors.
Congenital Abnormalities
MTHFD1 regulates nuclear de novo thymidylate biosynthesis and genome stability.
COVID-19
Construction of a Human Cell Landscape of COVID-19 Infection at Single-cell Level.
Diabetes Mellitus, Type 2
CpG-SNP site methylation regulates allele-specific expression of MTHFD1 gene in type 2 diabetes.
Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss.
Diabetic Nephropathies
The impact of 5,10-methenyltetrahydrofolate synthetase polymorphism on diabetic nephropathy in the taiwanese population.
Down Syndrome
BHMT G742A and MTHFD1 G1958A Polymorphisms and Down Syndrome Risk in the Brazilian Population.
Encephalocele
Evidence of gene-gene interactions between MTHFD1 and MTHFR in relation to anterior encephalocele susceptibility in Northeast India.
Endometriosis
Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility.
Epilepsy
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia.
Thymidylate synthase promoter tandem repeat and MTHFD1 R653Q polymorphisms modulate the risk for migraine conferred by the MTHFR T677 allele.
Esophageal Neoplasms
The role of mitochondrial folate enzyme MTHFD1L in esophageal squamous cell carcinoma.
Essential Hypertension
MTHFD1 promoter hypermethylation increases the risk of hypertension.
Exfoliation Syndrome
MTHFR and MTHFD1 gene polymorphisms are not associated with pseudoexfoliation syndrome in South Indian population.
Fetal Growth Retardation
One-carbon metabolism enzyme polymorphisms and uteroplacental insufficiency.
Folic Acid Deficiency
Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway.
formate-tetrahydrofolate ligase deficiency
MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice.
Genetic Diseases, Inborn
Detection of Polymorphisms in MTHFD1 G1958A and Its Possible Association with Idiopathic Male Infertility.
Head and Neck Neoplasms
Head and neck carconogenesis: impact of MTHFD1 G1958A polymorphism.
MTHFD1 G1958A, BHMT G742A, TC2 C776G and TC2 A67G polymorphisms and head and neck squamous cell carcinoma risk.
Heart Defects, Congenital
A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development.
MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice.
Relationship of the MTHFD1 (rs2236225), eNOS (rs1799983), CBS (rs2850144) and ACE (rs4343) gene polymorphisms in a population of Iranian pediatric patients with congenital heart defects.
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
Hemolytic-Uremic Syndrome
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism.
Hernia, Umbilical
Folate-related genes and omphalocele.
Hyperhomocysteinemia
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Hypertension
Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm.
MTHFD1 promoter hypermethylation increases the risk of hypertension.
Significant Association of Methylenetetrahydrofolate dehydrogenase 1 Promoter Hypomethylation with Stroke in a Chinese Population with Primary Hypertension.
Infections
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Construction of a Human Cell Landscape of COVID-19 Infection at Single-cell Level.
Infertility, Male
Detection of Polymorphisms in MTHFD1 G1958A and Its Possible Association with Idiopathic Male Infertility.
Intellectual Disability
A de Novo 1.5?Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.
Ischemic Stroke
Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.
Kidney Diseases
Genome-wide association study for renal traits in the Framingham Heart and Atherosclerosis Risk in Communities Studies.
Learning Disabilities
A de Novo 1.5?Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.
Leukopenia
Influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in childhood acute lymphoblastic leukemia.
Liver Neoplasms
The RFC1 80G>A, among Common One-Carbon Polymorphisms, Relates to Survival Rate According to DNA Global Methylation in Primary Liver Cancers.
Lung Neoplasms
Methylenetetrahydrofolate Dehydrogenase 1 Silencing Expedites the Apoptosis of Non-Small Cell Lung Cancer Cells via Modulating DNA Methylation.
One carbon metabolism in human lung cancer.
Prognostic significance of folate metabolism polymorphisms for lung cancer.
Lymphoma
Association between SNPs and hepatotoxicity in patients with primary central nervous system lymphoma on high-dose methotrexate therapy.
Microcephaly
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination.
A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia.
Migraine Disorders
Association Study of MTHFD1 Coding Polymorphisms R134K and R653Q With Migraine Susceptibility.
Thymidylate synthase promoter tandem repeat and MTHFD1 R653Q polymorphisms modulate the risk for migraine conferred by the MTHFR T677 allele.
Myocardial Infarction
B vitamin treatments modify the risk of myocardial infarction associated with a MTHFD1 polymorphism in patients with stable angina pectoris.
Methylenetetrahydrofolate Dehydrogenase 1 Polymorphisms Modify the Associations of Plasma Glycine and Serine With Risk of Acute Myocardial Infarction in Patients With Stable Angina Pectoris in WENBIT (Western Norway B Vitamin Intervention Trial).
Neoplasm Metastasis
Methylenetetrahydrofolate Dehydrogenase 1 Silencing Expedites the Apoptosis of Non-Small Cell Lung Cancer Cells via Modulating DNA Methylation.
Oxidative stress inhibits distant metastasis by human melanoma cells.
Neoplasms
5,10-Methenyltetrahydrofolate synthetase activity is increased in tumors and modifies the efficacy of antipurine LY309887.
A Reductionist Approach Using Primary and Metastatic Cell-Derived Extracellular Vesicles Reveals Hub Proteins Associated with Oral Cancer Prognosis.
Arsenic trioxide targets MTHFD1 and SUMO-dependent nuclear de novo thymidylate biosynthesis.
Association of methylenetetrahydrofolate dehydrogenase 1 polymorphisms with cancer: a meta-analysis.
Candidate pathway polymorphisms in one-carbon metabolism and risk of rectal tumor mutations.
Enzymatic activation of 5-formyltetrahydrofolate via conversion to 5, 10-methenyltetrahydrofolate.
Gene expression levels of gamma-glutamyl hydrolase in tumor tissues may be a useful biomarker for the proper use of S-1 and tegafur-uracil/leucovorin in preoperative chemoradiotherapy for patients with rectal cancer.
Head and neck cancer: genetic polymorphisms and folate metabolism.
Involvement of gene polymorphisms of the folate pathway enzymes in gene expression and anticancer drug sensitivity using the NCI-60 panel as a model.
Methylenetetrahydrofolate Dehydrogenase 1 (MTHFD1) is Underexpressed in Clear Cell Renal Cell Carcinoma Tissue and Transfection and Overexpression in Caki-1 Cells Inhibits Cell Proliferation and Increases Apoptosis.
Methylenetetrahydrofolate Dehydrogenase 1 Silencing Expedites the Apoptosis of Non-Small Cell Lung Cancer Cells via Modulating DNA Methylation.
MTHFD1 interaction with BRD4 links folate metabolism to transcriptional regulation.
Mthfd1 is a modifier of chemically induced intestinal carcinogenesis.
Mthfs is an Essential Gene in Mice and a Component of the Purinosome.
One-carbon genetic variants and the role of MTHFD1 1958G>A in liver and colon cancer risk according to global DNA methylation.
Oxidative stress inhibits distant metastasis by human melanoma cells.
Polymorphisms in folate-metabolizing genes and risk of non-Hodgkin's lymphoma.
The effect of folate-related SNPs on clinicopathological features, response to neoadjuvant treatment and survival in pre- and postmenopausal breast cancer patients.
The natural product carolacton inhibits folate-dependent C1 metabolism by targeting FolD/MTHFD.
Neural Tube Defects
A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development.
Analysis of the MTHFD1 promoter and risk of neural tube defects.
Association between MTHFD1 G1958A polymorphism and neural tube defects susceptibility: a meta-analysis.
Association between MTHFD1 polymorphisms and neural tube defect susceptibility.
Gene expression profiling of hereditary exencephaly in chickens.
Maternal Mthfd1 disruption impairs fetal growth but does not cause neural tube defects in mice.
MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice.
MTHFD1 polymorphism as maternal risk for neural tube defects: a meta-analysis.
Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring.
Polymorphisms in MTHFD1 Gene and Susceptibility to Neural Tube Defects: A Case-Control Study in a Chinese Han Population with Relatively Low Folate Levels.
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects.
Neuroblastoma
5,10-Methenyltetrahydrofolate synthetase activity is increased in tumors and modifies the efficacy of antipurine LY309887.
5-Formyltetrahydrofolate regulates homocysteine remethylation in human neuroblastoma.
Methenyltetrahydrofolate synthetase regulates folate turnover and accumulation.
Regulation of de novo purine biosynthesis by methenyltetrahydrofolate synthetase in neuroblastoma.
Obesity
CpG-SNP site methylation regulates allele-specific expression of MTHFD1 gene in type 2 diabetes.
The MTHFD1 1958G>A variant is associated with elevated C-reactive protein and body mass index in Canadian women from a premature birth cohort.
Ovarian Neoplasms
Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
Lack of association between MTHFD1 G401A polymorphism and ovarian cancer susceptibility.
pantoate-beta-alanine ligase (amp-forming) deficiency
Low Dietary Folate Interacts with MTHFD1 Synthetase Deficiency in Mice, a Model for the R653Q Variant, to Increase Incidence of Developmental Delays and Defects.
Parkinson Disease
Homocysteine Level and Mechanisms of Injury in Parkinson's Disease as Related to MTHFR, MTR, and MTHFD1 Genes Polymorphisms and L-Dopa Treatment.
Pneumonia, Mycoplasma
Investigations of Amino Acids in the 5-Formyltetrahydrofolate Binding Site of 5,10-Methenyltetrahydrofolate Synthetase from Mycoplasma pneumonia.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia.
Pregnancy Complications
The MTHFD1 1958G>A variant is associated with elevated C-reactive protein and body mass index in Canadian women from a premature birth cohort.
Premature Birth
The MTHFD1 1958G>A variant is associated with elevated C-reactive protein and body mass index in Canadian women from a premature birth cohort.
Pulmonary Disease, Chronic Obstructive
Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm.
Rectal Neoplasms
Candidate pathway polymorphisms in one-carbon metabolism and risk of rectal tumor mutations.
Severe Combined Immunodeficiency
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism.
New insights into the metabolic and nutritional determinants of severe combined immunodeficiency.
Severe combined immunodeficiency resulting from mutations in MTHFD1.
Small Cell Lung Carcinoma
One carbon metabolism in human lung cancer.
Prognostic significance of folate metabolism polymorphisms for lung cancer.
Spinal Dysraphism
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring.
Squamous Cell Carcinoma of Head and Neck
Association between 11 genetic polymorphisms in folate-metabolising genes and head and neck cancer risk.
MTHFD1 G1958A, BHMT G742A, TC2 C776G and TC2 A67G polymorphisms and head and neck squamous cell carcinoma risk.
Stroke
A comprehensive association analysis between homocysteine metabolic pathway gene methylation and ischemic stroke in a Chinese hypertensive population.
Significant Association of Methylenetetrahydrofolate dehydrogenase 1 Promoter Hypomethylation with Stroke in a Chinese Population with Primary Hypertension.
Tetralogy of Fallot
MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot.
Thrombocytopenia
Influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in childhood acute lymphoblastic leukemia.
Uterine Cervical Neoplasms
Folate and choline metabolism gene variants and development of uterine cervical carcinoma.