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The protein encoded by MTHFD1L is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. De plus, nous expédions MTHFD1L Anticorps (34) et MTHFD1L Kits (6) et beaucoup plus de produits pour cette protéine.
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MTHFD1L protein and RNA expression levels were significantly upregulated in esophageal squamous cell carcinoma tissue as compared with normal tissue. High expression of MTHFD1 was also detected in two esophageal cancer cell lines (TE-1 and EC109).
study identifies MTHFD1L in the folate cycle as an important metabolic pathway in cancer cells with the potential for therapeutic targeting
Studies reported that the A allele of a polymorphism in a gene involved in folate metabolism, MTHFD1L, showed a genome-wide significant association with late-onset Alzheimer's Disease.
rs6922269 variant at MTHFD1L gene could be an important prognostic factor for cardiovascular mortality in patients after ACS.
MTHFD1L rs6922269 genotype is associated with active vitamin B12 levels at baseline and may be a marker of prognostic risk in patients with established coronary heart disease.
Results indicate that miR-9 and MiR-197 specifically downregulate MTHFD1L in HEK293 and MCF-7 cells and that SNPrs7646 affects miR-197 binding to the MTHFD1L 3' UTR causing gene repression in the presence of the allele associated with neural tube defects.
The rs3832406 polymorphism was associated with isolated cleft lip with or without cleft palate.(MTHFD1L)
This study support a role of MTHFD1L gene in late-onset Alzheimer's disease in a Northern Han Chinese population.
No evidence of association between the MTHFD1L marker and susceptibility to Alzheimer's disease is found in a sample from a Spanish population.
Prevalence of minor allele A (adenosine) in rs11754661 single nucleotide polymorphism of MTHFD1L contributes to the risk of Alzheimer's disease in a Han population of mainland China.
Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
mitochondrial C1-tetrahydrofolate synthase gene structure and tissue distribution
association of rs6922269 with coronary heart disease not replicated in Tunisian sample
Two of the three alleles of rs3832406 are functionally different and influence the splicing efficiency of the alternate MTHFD1L mRNA transcripts.
Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain at the early second trimester may indicate abnormal folate metabolism and may reflect folate deficiency.
Gene encodes the mitochondrial isozyme of C1-tetrahydrofolate (THF) synthase, a monofunctional enzyme containing formyl-THF synthetase activity.
This study performed untargeted metabolomics on whole Mthfd1l-null and wildtype mouse embryos in combination with isotope tracer analysis in mouse embryonic fibroblast cell lines to identify Mthfd1l deletion-induced disruptions in 1-carbon metabolism, glycolysis, and the TCA cycle. Mthfd1l-null fibroblasts have altered methionine synthesis, indicating that Mthfd1l deletion impairs the methyl cycle.
Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice.
Data show that the MTHFD1L enzyme is present in mitochondria from normal embryonic tissues and embryonic fibroblast cell lines, and embryonic mitochondria possess the ability to synthesize formate from glycine.
The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.
, formyltetrahydrofolate synthetase domain containing 1
, monofunctional C1-tetrahydrofolate synthase, mitochondrial
, formyltetrahydrofolate synthetase