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Disease on EC 6.3.4.3 - formate-tetrahydrofolate ligase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Abortion, Habitual
Polymorphisms in MTHFR, MTHFD, and PAI-1 and recurrent miscarriage among North Indian women.
Alzheimer Disease
Chromosomal fragility associated with familial Alzheimer's disease.
Anemia, Megaloblastic
Update and new concepts in vitamin responsive disorders of folate transport and metabolism.
Atypical Hemolytic Uremic Syndrome
Update and new concepts in vitamin responsive disorders of folate transport and metabolism.
Carcinogenesis
Polymorphisms of MTHFD, plasma homocysteine levels, and risk of gastric cancer in a high-risk Chinese population.
Cleft Palate
Is MTHFD1 polymorphism rs 2236225 (c.1958G>A) associated with the susceptibility of NSCL/P? A systematic review and meta-analysis.
Colonic Neoplasms
A novel mitochondrial C1-tetrahydrofolate synthetase is upregulated in human colon adenocarcinoma.
Integrated bioinformatics analysis identified MTHFD1L as a potential biomarker and correlated with immune infiltrates in hepatocellular carcinoma.
Mthfd1 is a modifier of chemically induced intestinal carcinogenesis.
Colorectal Neoplasms
High expression of folate cycle enzyme MTHFD1L correlates with poor prognosis and increased proliferation and migration in colorectal cancer.
[Prediction of the efficacy of modified FOLFOX6 therapy according to the mRNA levels of thymidylate synthase (TS), excision repair cross-complementing-1 and -2( ERCC-1 and ERCC-2) and methylenetetrahydrofolate dehydrogenase( MTHFD) in the primary lesion of colorectal cancer].
Down Syndrome
Combined folate gene MTHFD and TC polymorphisms as maternal risk factors for Down syndrome in China.
Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain.
formate-tetrahydrofolate ligase deficiency
MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice.
Heart Defects, Congenital
MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice.
Heart Diseases
MTHFR c.1793G>A polymorphism is associated with congenital cardiac disease in a Chinese population.
Infections
Formate-tetrahydrofolate ligase is involved in the virulence of Streptococcus suis serotype 2.
Intestinal Neoplasms
Mthfd1 is a modifier of chemically induced intestinal carcinogenesis.
Laryngeal Neoplasms
Polymorphic variants of folate metabolism genes and the risk of laryngeal cancer.
Lymphoma, Non-Hodgkin
Polymorphisms in folate-metabolizing genes and risk of non-Hodgkin's lymphoma.
Neoplasm Metastasis
[Prediction of the efficacy of modified FOLFOX6 therapy according to the mRNA levels of thymidylate synthase (TS), excision repair cross-complementing-1 and -2( ERCC-1 and ERCC-2) and methylenetetrahydrofolate dehydrogenase( MTHFD) in the primary lesion of colorectal cancer].
Neoplasms
Folate cycle enzyme MTHFD1L confers metabolic advantages in hepatocellular carcinoma.
Folate enzymes in Ehrlich ascites carcinoma-bearing mice.
Mitochondrial MTHFD isozymes display distinct expression, regulation, and association with cancer.
Mthfd1 is a modifier of chemically induced intestinal carcinogenesis.
MTHFD1L as a folate cycle enzyme correlates with prognostic outcome and its knockdown impairs cell invasive behaviors in osteosarcoma via mediating the AKT/mTOR pathway.
The activities of the NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase from ascites tumor cells are kinetically independent.
[Polymorphic variants of folate metabolizing genes (C677T and A1298C MTHFR, C1420T SHMT1 and G1958A MTHFD) are not associated with the risk of breast cancer in West Siberian Region of Russia].
Neural Tube Defects
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.
Severe Combined Immunodeficiency
Update and new concepts in vitamin responsive disorders of folate transport and metabolism.
Stomach Neoplasms
Polymorphisms of MTHFD, plasma homocysteine levels, and risk of gastric cancer in a high-risk Chinese population.
Tetralogy of Fallot
MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot.