Recombinant Mouse Methylenetetrahydrofolate reductase (Mthfr)

1. findings indicate that the loss of folate as a methyl donor is a modifier of allergic airway disease, and that epigenetic and expression changes correlate with this modification. PMID: 29329322
2. Ganglion cell loss and vasculopathy observed in Mthfr+/- and Cbs+/- mouse retinas may be milder than expected, not because of compensatory increases of enzymes in remethylation/transsulfuration pathways, but because downstream transsulfuration pathway products GSH, taurine, and H2S are maintained at robust levels. PMID: 28384716
3. In summary, high folate intake during pregnancy leads to pseudo-MTHFR deficiency, disturbed choline/methyl metabolism, embryonic growth delay and memory impairment in offspring. These findings highlight the unintended negative consequences of supplemental folic acid. PMID: 28069796
4. Study demonstrated that maternal MTHFR deficiency (i.e., in utero MTHFR deficiency) and early life exposure to vigabatrin separately and together alter the levels of proteins in the glutamatergic synapse PMID: 26235956
5. Mildly hyperhomocysteinemic Mthfr+/- mice demonstrate reduced ganglion cell function, thinner NFL, and mild vasculopathy by 24 weeks. PMID: 25766590
6. DNA methylation patterns in undifferentiated spermatogonia are relatively stable in culture over time under conditions of altered methionine and MTHFR levels. PMID: 24048573
7. Data from Mthfr knockout mice (in homozygous/heterozygous matings) suggest that maternal genotype contributes to sensitivity to arsenic as embryotoxin (i.e., genetic predisposition to fetal resorption/congenital malformation in arsenic poisoning). PMID: 24384392
8. our results support an interaction between mild neonatal stress, the MTHFR genotype and sex PMID: 23896051
9. expressed in placenta at highest level during early development PMID: 22365888
10. investigation of Mthfr regulation in an in vivo mouse model revealed temporal- and tissue-specific regulation that supports important roles for MTHFR in the developing embryo, and in postnatal brain and male reproductive tissues PMID: 21769670
11. A possible mechanism for the epigenetic involvement of Mthfr deficiency is proposed in the gender-dependent regulation of proteins associated with plasticity of the excitatory synapse. PMID: 21490592
12. These results showed that methylenetetrahydrofolate reductase deficiency impairs endothelial progenitor cell formation and increases endothelial progenitor cell senescence by endothelial nitric oxide synthase uncoupling and downregulation of SIRT1. PMID: 21169404
13. Variable presentation of MTHFR deficiency in different genetic backgrounds; plasma homocysteine is not a predictor of severity. PMID: 20532821
14. Newborn reflex development was slightly influenced by Mthfr +/- genotype and by the combination genotype and the neonatal vigabatrin (GVG) administration, in a sex-independent manner. Females presented attenuated anxiety due to Mthfr +/- genotype and GVG. PMID: 20813139
15. multiple transcription start sites and alternative splicing PMID: 12370778
16. reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the major carbon donor in the remethylation of homocysteine to methionine PMID: 14577615
17. Mthfr(+/-) genotype sensitizes mice to diet-induced hyperhomocysteinemia and hyperhomocysteinemia alters tissue methylation capacity and impairs endothelial function in cerebral microvessels. PMID: 14630804
18. These results suggest a possibility that the truncated pseudogene may buffer variations of the mouse Mthfr functional gene, and the mouse has evolved fewer variations of the gene than human PMID: 14637162
19. important role for choline and betaine depletion in the pathogenesis of homocystinuria due to MTHFR deficiency PMID: 15217352
20. MTHFR plays a role in cerebellar patterning, possibly through effects on proliferation or apoptosis. PMID: 15979267
21. the elucidation of Mthfr regulation, demonstrates that two TATA-less, GC-rich promoters differentially drive transcription of Mthfr in a cell-specific manner, and provides a novel link of Mthfr to possible roles in the immune response and cell survival PMID: 16274753
22. No interaction between Sp and Mthfr mutations, or between the Sp mutation and low dietary folate, in neural tube development, were observed. PMID: 16397891
23. Review. A knockout mouse model for MTHFR deficiency displays hyperhomocysteinemia, homocystinuria, birth defects, and lipid metabolism alterations. PMID: 17349292
24. Mild (methylenetetrahydrofolate reductase) MTHFR deficiency (heterozygotes) in mice is associated with increased risk for atherosclerotic disease PMID: 17689540
25. Underexpression and overexpression of Mthfr/MTHFR increase MTX-induced myelosuppression but have distinct effects on plasma homocysteine and nephrotoxicity. PMID: 18551038
26. VPA increases MTHFR expression and has lower teratogenic potential in MTHFR deficiency PMID: 18615588
27. Maternal MTHFR and folate deficiencies resulted in increased developmental delays and smaller embryos. PMID: 19215022
28. Hyperhomocysteinemia is associated with hypertriglyceridemia and that MTHFR deficiency may exacerbate lipid accumulation in ApoE deficiency. PMID: 19560954
29. Mthfr deficiency protects against murine cytomegalovirus infection in vivo and in vitro PMID: 19609317

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KEGG: mmu:17769

STRING: 10090.ENSMUSP00000069774

UniGene: Mm.89959