Mthfr

Summary

Gene Symbol: Mthfr
Description: methylenetetrahydrofolate reductase
Alias: AI323986, methylenetetrahydrofolate reductase, 5,10-methylenetetrahydrofolate reductase
Species: mouse
Products:     Mthfr

Top Publications

  1. Gaughan D, Barbaux S, Kluijtmans L, Whitehead A. The human and mouse methylenetetrahydrofolate reductase (MTHFR) genes: genomic organization, mRNA structure and linkage to the CLCN6 gene. Gene. 2000;257:279-89 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR), a pivotal enzyme in folate metabolism, regulates the proportional distribution of one-carbon moieties between cellular methylation reactions and nucleic acid synthesis...
  2. Leclerc D, Rozen R. Endoplasmic reticulum stress increases the expression of methylenetetrahydrofolate reductase through the IRE1 transducer. J Biol Chem. 2008;283:3151-60 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR), an enzyme in folate and homocysteine metabolism, influences many cellular processes including methionine and nucleotide synthesis, methylation reactions, and maintenance of homocysteine at ..
  3. Schwahn B, Chen Z, Laryea M, Wendel U, Lussier Cacan S, Genest J, et al. Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency. FASEB J. 2003;17:512-4 pubmed
    ..The most frequent genetic cause of hyperhomocysteinemia is a mutated methylenetetrahydrofolate reductase (MTHFR), predominantly when folate status is impaired...
  4. Markand S, Saul A, Roon P, Prasad P, Martin P, Rozen R, et al. Retinal Ganglion Cell Loss and Mild Vasculopathy in Methylene Tetrahydrofolate Reductase (Mthfr)-Deficient Mice: A Model of Mild Hyperhomocysteinemia. Invest Ophthalmol Vis Sci. 2015;56:2684-95 pubmed publisher
    b>Methylenetetrahydrofolate reductase (Mthfr) is a key enzyme in homocysteine-methionine metabolism...
  5. Cherukad J, Wainwright V, Watson E. Spatial and temporal expression of folate-related transporters and metabolic enzymes during mouse placental development. Placenta. 2012;33:440-8 pubmed publisher
    ..receptor [Slc46a1 or PCFT] and reduced folate carrier-1 [Rfc1]) and folate metabolic enzymes (5,10-methylenetetrahydrofolate reductase [Mthfr] and methionine synthase [Mtr]) in histological sections of mouse placentas from early ..
  6. Schwahn B, Laryea M, Chen Z, Melnyk S, Pogribny I, Garrow T, et al. Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. Biochem J. 2004;382:831-40 pubmed
    MTHFR (methylenetetrahydrofolate reductase) catalyses the synthesis of 5-methyltetrahydrofolate, the folate derivative utilized in homocysteine remethylation to methionine...
  7. Wlodarczyk B, Zhu H, Finnell R. Mthfr gene ablation enhances susceptibility to arsenic prenatal toxicity. Toxicol Appl Pharmacol. 2014;275:22-7 pubmed publisher
    ..In this study, we investigated the potential interaction between 5,10-methylenetetrahydrofolate reductase (Mthfr) genotype and arsenic embryotoxicity using the Mthfr knockout mouse model...
  8. Pickell L, Wu Q, Wang X, Leclerc D, Friedman H, Peterson A, et al. Targeted insertion of two Mthfr promoters in mice reveals temporal- and tissue-specific regulation. Mamm Genome. 2011;22:635-47 pubmed publisher
    b>Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in folate metabolism, synthesizes 5-methyltetrahydrofolate, the main circulatory form of folate which is required for maintaining nontoxic levels of homocysteine and providing one-..
  9. Nishimura M, Isaka F, Ishibashi M, Tomita K, Tsuda H, Nakanishi S, et al. Structure, chromosomal locus, and promoter of mouse Hes2 gene, a homologue of Drosophila hairy and Enhancer of split. Genomics. 1998;49:69-75 pubmed
    ..These results suggest that Hes genes are functionally classified into two groups: those that are regulated by Notch and those that are not. ..
  10. de Lecea L, Ruiz Lozano P, Danielson P, Peelle Kirley J, Foye P, Frankel W, et al. Cloning, mRNA expression, and chromosomal mapping of mouse and human preprocortistatin. Genomics. 1997;42:499-506 pubmed
    ..The human putative cortistatin peptide has an arginine for lysine substitution, compared to the rat and mouse products, and is N-terminally extended by 3 amino acids. ..

Detail Information

Publications61

  1. Gaughan D, Barbaux S, Kluijtmans L, Whitehead A. The human and mouse methylenetetrahydrofolate reductase (MTHFR) genes: genomic organization, mRNA structure and linkage to the CLCN6 gene. Gene. 2000;257:279-89 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR), a pivotal enzyme in folate metabolism, regulates the proportional distribution of one-carbon moieties between cellular methylation reactions and nucleic acid synthesis...
  2. Leclerc D, Rozen R. Endoplasmic reticulum stress increases the expression of methylenetetrahydrofolate reductase through the IRE1 transducer. J Biol Chem. 2008;283:3151-60 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR), an enzyme in folate and homocysteine metabolism, influences many cellular processes including methionine and nucleotide synthesis, methylation reactions, and maintenance of homocysteine at ..
  3. Schwahn B, Chen Z, Laryea M, Wendel U, Lussier Cacan S, Genest J, et al. Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency. FASEB J. 2003;17:512-4 pubmed
    ..The most frequent genetic cause of hyperhomocysteinemia is a mutated methylenetetrahydrofolate reductase (MTHFR), predominantly when folate status is impaired...
  4. Markand S, Saul A, Roon P, Prasad P, Martin P, Rozen R, et al. Retinal Ganglion Cell Loss and Mild Vasculopathy in Methylene Tetrahydrofolate Reductase (Mthfr)-Deficient Mice: A Model of Mild Hyperhomocysteinemia. Invest Ophthalmol Vis Sci. 2015;56:2684-95 pubmed publisher
    b>Methylenetetrahydrofolate reductase (Mthfr) is a key enzyme in homocysteine-methionine metabolism...
  5. Cherukad J, Wainwright V, Watson E. Spatial and temporal expression of folate-related transporters and metabolic enzymes during mouse placental development. Placenta. 2012;33:440-8 pubmed publisher
    ..receptor [Slc46a1 or PCFT] and reduced folate carrier-1 [Rfc1]) and folate metabolic enzymes (5,10-methylenetetrahydrofolate reductase [Mthfr] and methionine synthase [Mtr]) in histological sections of mouse placentas from early ..
  6. Schwahn B, Laryea M, Chen Z, Melnyk S, Pogribny I, Garrow T, et al. Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. Biochem J. 2004;382:831-40 pubmed
    MTHFR (methylenetetrahydrofolate reductase) catalyses the synthesis of 5-methyltetrahydrofolate, the folate derivative utilized in homocysteine remethylation to methionine...
  7. Wlodarczyk B, Zhu H, Finnell R. Mthfr gene ablation enhances susceptibility to arsenic prenatal toxicity. Toxicol Appl Pharmacol. 2014;275:22-7 pubmed publisher
    ..In this study, we investigated the potential interaction between 5,10-methylenetetrahydrofolate reductase (Mthfr) genotype and arsenic embryotoxicity using the Mthfr knockout mouse model...
  8. Pickell L, Wu Q, Wang X, Leclerc D, Friedman H, Peterson A, et al. Targeted insertion of two Mthfr promoters in mice reveals temporal- and tissue-specific regulation. Mamm Genome. 2011;22:635-47 pubmed publisher
    b>Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in folate metabolism, synthesizes 5-methyltetrahydrofolate, the main circulatory form of folate which is required for maintaining nontoxic levels of homocysteine and providing one-..
  9. Nishimura M, Isaka F, Ishibashi M, Tomita K, Tsuda H, Nakanishi S, et al. Structure, chromosomal locus, and promoter of mouse Hes2 gene, a homologue of Drosophila hairy and Enhancer of split. Genomics. 1998;49:69-75 pubmed
    ..These results suggest that Hes genes are functionally classified into two groups: those that are regulated by Notch and those that are not. ..
  10. de Lecea L, Ruiz Lozano P, Danielson P, Peelle Kirley J, Foye P, Frankel W, et al. Cloning, mRNA expression, and chromosomal mapping of mouse and human preprocortistatin. Genomics. 1997;42:499-506 pubmed
    ..The human putative cortistatin peptide has an arginine for lysine substitution, compared to the rat and mouse products, and is N-terminally extended by 3 amino acids. ..
  11. Maclean K, Sikora J, Kozich V, Jiang H, Greiner L, Kraus E, et al. A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment. Mol Genet Metab. 2010;101:153-62 pubmed publisher
    ..Our findings indicate that this mouse model will be a valuable tool in the study of pathogenesis in classical homocystinuria and the rational design of novel treatments. ..
  12. Blumkin E, Levav Rabkin T, Melamed O, Galron D, Golan H. Gender-specific effect of Mthfr genotype and neonatal vigabatrin interaction on synaptic proteins in mouse cortex. Neuropsychopharmacology. 2011;36:1714-28 pubmed publisher
    The enzyme methylenetetrahydrofolate reductase (MTHFR) is a part of the homocysteine and folate metabolic pathways, affecting the methylations of DNA, RNA, and proteins...
  13. Knock E, Deng L, Wu Q, Leclerc D, Wang X, Rozen R. Low dietary folate initiates intestinal tumors in mice, with altered expression of G2-M checkpoint regulators polo-like kinase 1 and cell division cycle 25c. Cancer Res. 2006;66:10349-56 pubmed
    ..tumor model in which mice, with or without a null allele in a key folate-metabolizing enzyme, methylenetetrahydrofolate reductase (Mthfr), develop intestinal tumors due to low dietary folate alone. On folate-deficient diets, 12...
  14. Li D, Rozen R. Maternal folate deficiency affects proliferation, but not apoptosis, in embryonic mouse heart. J Nutr. 2006;136:1774-8 pubmed
    Low dietary folate and deficiency of methylenetetrahydrofolate reductase (Mthfr) were reported to increase the risk for congenital heart defects, but contributory mechanisms have not been elucidated...
  15. Roy M, Leclerc D, Wu Q, Gupta S, Kruger W, Rozen R. Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency. J Cell Biochem. 2008;105:467-76 pubmed publisher
    ..Since methylenetetrahydrofolate reductase (MTHFR) is a key enzyme of folate interconversion and homocysteine metabolism, we addressed the ..
  16. Chew T, Jiang X, Yan J, Wang W, Lusa A, Carrier B, et al. Folate intake, MTHFR genotype, and sex modulate choline metabolism in mice. J Nutr. 2011;141:1475-81 pubmed publisher
    ..Folate deficiency and mutations of methylenetetrahydrofolate reductase (MTHFR) reduce the availability of a major methyl donor, 5-methyltetrahydrofolate, which in turn ..
  17. Ghandour H, Chen Z, Selhub J, Rozen R. Mice deficient in methylenetetrahydrofolate reductase exhibit tissue-specific distribution of folates. J Nutr. 2004;134:2975-8 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) catalyzes the synthesis of 5-methyltetrahydrofolate (5-methylTHF), which is used for homocysteine remethylation to methionine, the precursor of S-adenosylmethionine (SAM)...
  18. Bublil E, Majtan T, Park I, Carrillo R, Hulkova H, Krijt J, et al. Enzyme replacement with PEGylated cystathionine ?-synthase ameliorates homocystinuria in murine model. J Clin Invest. 2016;126:2372-84 pubmed publisher
  19. Neves M, Endemann D, Amiri F, Virdis A, Pu Q, Rozen R, et al. Small artery mechanics in hyperhomocysteinemic mice: effects of angiotensin II. J Hypertens. 2004;22:959-66 pubmed
    ..Wild-type (+/+) and heterozygous (+/-) methylenetetrahydrofolate reductase (Mthfr) knockout mice, a new model of mild H-Hcy, were treated with vehicle or angiotensin (Ang) II ..
  20. Leclerc D, Darwich Codore H, Rozen R. Characterization of a pseudogene for murine methylenetetrahydrofolate reductase. Mol Cell Biochem. 2003;252:391-5 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the major carbon donor in the remethylation of homocysteine to methionine...
  21. Jadavji N, Deng L, Malysheva O, Caudill M, Rozen R. MTHFR deficiency or reduced intake of folate or choline in pregnant mice results in impaired short-term memory and increased apoptosis in the hippocampus of wild-type offspring. Neuroscience. 2015;300:1-9 pubmed publisher
    ..In earlier work, we showed that mice with a complete deficiency of methylenetetrahydrofolate reductase (MTHFR), a critical enzyme in folate and homocysteine metabolism, had cognitive impairment with ..
  22. Pickell L, Tran P, Leclerc D, Hiscott J, Rozen R. Regulatory studies of murine methylenetetrahydrofolate reductase reveal two major promoters and NF-kappaB sensitivity. Biochim Biophys Acta. 2005;1731:104-14 pubmed
    Two promoters of the murine methylenetetrahydrofolate reductase gene (Mthfr), a key enzyme in folate metabolism, were characterized in Neuro-2a, NIH/3T3 and RAW 264.7 cells...
  23. Garcia Crespo D, Knock E, Jabado N, Rozen R. Intestinal neoplasia induced by low dietary folate is associated with altered tumor expression profiles and decreased apoptosis in mouse normal intestine. J Nutr. 2009;139:488-94 pubmed publisher
    ..Folate depletion in normal intestine may trigger neoplasia through increased DNA damage and defective apoptosis; upregulation of CD44 and gelsolin, and the mitochondrial apoptotic pathway are implicated. ..
  24. Celtikci B, Leclerc D, Lawrance A, Deng L, Friedman H, Krupenko N, et al. Altered expression of methylenetetrahydrofolate reductase modifies response to methotrexate in mice. Pharmacogenet Genomics. 2008;18:577-89 pubmed publisher
    ..A common polymorphism (677C-->T) in methylenetetrahydrofolate reductase (MTHFR) encodes an enzyme with reduced activity...
  25. Kvajo M, McKellar H, Gogos J. Avoiding mouse traps in schizophrenia genetics: lessons and promises from current and emerging mouse models. Neuroscience. 2012;211:136-64 pubmed publisher
    ..Finally, we discuss emerging mouse models, such as second-generation pathophysiology models based on innovative approaches that are facilitated by the information gathered from the current genetic mouse models. ..
  26. Knock E, Deng L, Wu Q, Lawrance A, Wang X, Rozen R. Strain differences in mice highlight the role of DNA damage in neoplasia induced by low dietary folate. J Nutr. 2008;138:653-8 pubmed
    ..However, DNA damage plays a critical role in initiating tumorigenesis when dietary folate is low and methylation changes may also be contributory. ..
  27. Lawrance A, Racine J, Deng L, Wang X, Lachapelle P, Rozen R. Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes. J Inherit Metab Dis. 2011;34:147-57 pubmed publisher
    Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) with homocystinuria can result in early demise or later-onset neurological impairment, including developmental delay, motor dysfunction, and seizures...
  28. Kelly T, Neaga O, Schwahn B, Rozen R, Trasler J. Infertility in 5,10-methylenetetrahydrofolate reductase (MTHFR)-deficient male mice is partially alleviated by lifetime dietary betaine supplementation. Biol Reprod. 2005;72:667-77 pubmed
    Metabolism of folate is essential for proper cellular function. Within the folate pathway, methylenetetrahydrofolate reductase (MTHFR) reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a methyl donor for remethylation ..
  29. Zuckerman C, Blumkin E, Melamed O, Golan H. Glutamatergic synapse protein composition of wild-type mice is sensitive to in utero MTHFR genotype and the timing of neonatal vigabatrin exposure. Eur Neuropsychopharmacol. 2015;25:1787-802 pubmed publisher
    The enzyme methylenetetrahydrofolate-reductase (MTHFR) is part of the homocysteine and folate metabolic pathways...
  30. Bahous R, Jadavji N, Deng L, Cosín Tomás M, Lu J, Malysheva O, et al. High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring. Hum Mol Genet. 2017;26:888-900 pubmed publisher
    b>Methylenetetrahydrofolate reductase (MTHFR) generates methyltetrahydrofolate for methylation reactions. Severe MTHFR deficiency results in homocystinuria and neurologic impairment...
  31. Schwahn B, Wang X, Mikael L, Wu Q, Cohn J, Jiang H, et al. Betaine supplementation improves the atherogenic risk factor profile in a transgenic mouse model of hyperhomocysteinemia. Atherosclerosis. 2007;195:e100-7 pubmed
    ..Adult mice, wild type (+/+) or heterozygous (+/-) for a disruption of the methylenetetrahydrofolate reductase (Mthfr) gene, were supplemented with betaine for 1 year and compared with mice on control diets...
  32. Hoffmann L, Brauers G, Gehrmann T, Haussinger D, Mayatepek E, Schliess F, et al. Osmotic regulation of hepatic betaine metabolism. Am J Physiol Gastrointest Liver Physiol. 2013;304:G835-46 pubmed publisher
    ..well as metabolic and gene expression profiling in primary hepatocytes of both wild-type and 5,10-methylenetetrahydrofolate reductase (MTHFR)-deficient mice...
  33. Li D, Pickell L, Liu Y, Rozen R. Impact of methylenetetrahydrofolate reductase deficiency and low dietary folate on the development of neural tube defects in splotch mice. Birth Defects Res A Clin Mol Teratol. 2006;76:55-9 pubmed
    ..Folate supplementation prevents the majority of NTDs, and a polymorphism in methylenetetrahydrofolate reductase (MTHFR) has become recognized as a genetic risk factor...
  34. Garner J, Niles K, McGraw S, Yeh J, Cushnie D, Hermo L, et al. Stability of DNA methylation patterns in mouse spermatogonia under conditions of MTHFR deficiency and methionine supplementation. Biol Reprod. 2013;89:125 pubmed publisher
    ..5,10-Methylenetetrahydrofolate reductase (MTHFR) is a key folate pathway enzyme involved in providing methyl groups from dietary folate for ..
  35. Pickell L, Li D, Brown K, Mikael L, Wang X, Wu Q, et al. Methylenetetrahydrofolate reductase deficiency and low dietary folate increase embryonic delay and placental abnormalities in mice. Birth Defects Res A Clin Mol Teratol. 2009;85:531-41 pubmed publisher
    Despite extensive research on mild methylenetetrahydrofolate reductase (MTHFR) deficiency and low dietary folate in different disorders, the association of these metabolic disturbances with a variety of congenital defects and pregnancy ..
  36. Mikael L, Pancer J, Wu Q, Rozen R. Disturbed one-carbon metabolism causing adverse reproductive outcomes in mice is associated with altered expression of apolipoprotein AI and inflammatory mediators PPAR?, interferon-?, and interleukin-10. J Nutr. 2012;142:411-8 pubmed publisher
    Low dietary choline or deficiency of methylenetetrahydrofolate reductase (Mthfr) leads to hyperhomocysteinemia (Hhcy) and adverse reproductive outcomes...
  37. Virdis A, Iglarz M, Neves M, Amiri F, Touyz R, Rozen R, et al. Effect of hyperhomocystinemia and hypertension on endothelial function in methylenetetrahydrofolate reductase-deficient mice. Arterioscler Thromb Vasc Biol. 2003;23:1352-7 pubmed
    ..the effect of hyperhomocystinemia and angiotensin (Ang) II on vascular function and structure in methylenetetrahydrofolate reductase knockout mice (Mthfr+/-)...
  38. Cui X, Navneet S, Wang J, Roon P, Chen W, Xian M, et al. Analysis of MTHFR, CBS, Glutathione, Taurine, and Hydrogen Sulfide Levels in Retinas of Hyperhomocysteinemic Mice. Invest Ophthalmol Vis Sci. 2017;58:1954-1963 pubmed publisher
    ..whereas retinal phenotypes in Hhcy mice caused by mutations in remethylation (methylene tetrahydrofolatereductase [Mthfr+/-]) or transsulfuration pathways (cystathionine ?-synthase [Cbs+/-]) demonstrate mild GC loss and mild ..
  39. Jadavji N, Emmerson J, MacFarlane A, Willmore W, Smith P. B-vitamin and choline supplementation increases neuroplasticity and recovery after stroke. Neurobiol Dis. 2017;103:89-100 pubmed publisher
    ..The second objective was to determine how a genetic deficiency in methylenetetrahydrofolate reductase (MTHFR), an enzyme involved in folate metabolism, increases vulnerability to stroke...
  40. Frosst P, Zhang Z, Pai A, Rozen R. The methylenetetrahydrofolate reductase (Mthfr) gene maps to distal mouse chromosome 4. Mamm Genome. 1996;7:864-5 pubmed
  41. Jadavji N, Deng L, Leclerc D, Malysheva O, Bedell B, Caudill M, et al. Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus. Mol Genet Metab. 2012;106:149-59 pubmed publisher
    ..b>Methylenetetrahydrofolate reductase (MTHFR) generates the primary circulatory form of folate required for homocysteine remethylation to ..
  42. Eyring K, Pedersen B, Maclean K, Stabler S, Yang I, Schwartz D. Methylene-tetrahydrofolate reductase contributes to allergic airway disease. PLoS ONE. 2018;13:e0190916 pubmed publisher
    ..We hypothesized that blocking folate metabolism through the loss of methylene-tetrahydrofolate reductase (Mthfr) activity would reduce the allergic airway disease phenotype through epigenetic mechanisms...
  43. Levav Rabkin T, Blumkin E, Galron D, Golan H. Sex-dependent behavioral effects of Mthfr deficiency and neonatal GABA potentiation in mice. Behav Brain Res. 2011;216:505-13 pubmed publisher
    The methylenetetrahydrofolate reductase (Mthfr) gene and/or abnormal homocysteine-folate metabolism are associated with increased risk for birth defects and neuropsychiatric diseases...
  44. Chan D, Cushnie D, Neaga O, Lawrance A, Rozen R, Trasler J. Strain-specific defects in testicular development and sperm epigenetic patterns in 5,10-methylenetetrahydrofolate reductase-deficient mice. Endocrinology. 2010;151:3363-73 pubmed publisher
    b>Methylenetetrahydrofolate reductase (MTHFR) is a crucial folate pathway enzyme that contributes to the maintenance of cellular pools of S-adenosylmethionine, the universal methyl donor for several reactions including DNA methylation...
  45. Lemarié C, Shbat L, Marchesi C, Angulo O, Deschênes M, Blostein M, et al. Mthfr deficiency induces endothelial progenitor cell senescence via uncoupling of eNOS and downregulation of SIRT1. Am J Physiol Heart Circ Physiol. 2011;300:H745-53 pubmed publisher
    ..Mice heterozygous for the gene deletion of methylenetetrahydrofolate reductase (Mthfr(+/-)) have a 1.5- to 2-fold elevation in plasma homocysteine...
  46. Mikael L, Wang X, Wu Q, Jiang H, Maclean K, Rozen R. Hyperhomocysteinemia is associated with hypertriglyceridemia in mice with methylenetetrahydrofolate reductase deficiency. Mol Genet Metab. 2009;98:187-94 pubmed publisher
    ..The most common genetic cause of mild HHcy is methylenetetrahydrofolate reductase (MTHFR) deficiency...
  47. Liu S, Li Y, Chen Y, Chiang E, Li A, Lee Y, et al. Glycine N-methyltransferase-/- mice develop chronic hepatitis and glycogen storage disease in the liver. Hepatology. 2007;46:1413-25 pubmed
    ..chain reaction analysis of 10 genes in the one-carbon metabolism pathway revealed that 5,10-methylenetetrahydrofolate reductase, S-adenosylhomocysteine hydrolase (Ahcy), and formiminotransferase cyclodeaminase (Ftcd) were ..
  48. Leclerc D, Rozen R. [Molecular genetics of MTHFR: polymorphisms are not all benign]. Med Sci (Paris). 2007;23:297-302 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in folate and homocysteine metabolism...
  49. Finnell R, Wlodarczyk B, Craig J, Piedrahita J, Bennett G. Strain-dependent alterations in the expression of folate pathway genes following teratogenic exposure to valproic acid in a mouse model. Am J Med Genet. 1997;70:303-11 pubmed
    ..neural tube closure examined in this study, the LM/Bc embryos had significantly higher MTHFR (5,10-methylenetetrahydrofolate reductase) gene expression levels compared to the SWV embryos...
  50. Chen Z, Schwahn B, Wu Q, He X, Rozen R. Postnatal cerebellar defects in mice deficient in methylenetetrahydrofolate reductase. Int J Dev Neurosci. 2005;23:465-74 pubmed
    Patients with severe deficiency of methylenetetrahydrofolate reductase (MTHFR) suffer from a wide variety of neurological problems, which can begin in the neonatal period...
  51. Marks P, Kwiatkowski D. Genomic organization and chromosomal location of murine Cdc42. Genomics. 1996;38:13-8 pubmed
    ..Using single-strand conformation polymorphism analysis of a mouse backcross panel, the gene encoding cdc42 has been localized to distal chromosome 4. ..
  52. Yehiely F, Bamborough P, Da Costa M, Perry B, Thinakaran G, Cohen F, et al. Identification of candidate proteins binding to prion protein. Neurobiol Dis. 1997;3:339-55 pubmed
    ..Four of the isolated clones are expressed preferentially in the mouse brain and encode a similar motif. ..
  53. Chen Z, Karaplis A, Ackerman S, Pogribny I, Melnyk S, Lussier Cacan S, et al. Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Hum Mol Genet. 2001;10:433-43 pubmed
    ..The most common genetic cause of hyperhomocysteinemia is the 677C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene...
  54. Dutchak P, Laxman S, Estill S, Wang C, Wang Y, Wang Y, et al. Regulation of Hematopoiesis and Methionine Homeostasis by mTORC1 Inhibitor NPRL2. Cell Rep. 2015;12:371-9 pubmed publisher
  55. Tran P, Leclerc D, Chan M, Pai A, Hiou Tim F, Wu Q, et al. Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms. Mamm Genome. 2002;13:483-92 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the major carbon donor in the remethylation of homocysteine to methionine...
  56. Devlin A, Arning E, Bottiglieri T, Faraci F, Rozen R, Lentz S. Effect of Mthfr genotype on diet-induced hyperhomocysteinemia and vascular function in mice. Blood. 2004;103:2624-9 pubmed
    Deficiency of methylenetetrahydrofolate reductase (MTHFR) predisposes to hyperhomocysteinemia and vascular disease...
  57. Takeya C, Esumi M, Shiroishi T, Hishida R, Yamamoto T. Multiple single-nucleotide polymorphisms in the methylenetetrahydrofolate reductase and its truncated pseudogene of 23 inbred strains of mice. Biochem Biophys Res Commun. 2003;312:480-6 pubmed
    Reduced 5,10-methylenetetrahydrofolate reductase (MTHFR) results in a number of human diseases...
  58. Kezurer N, Galron D, Golan H. Increased susceptibility to mild neonatal stress in MTHFR deficient mice. Behav Brain Res. 2013;253:240-52 pubmed publisher
    ..The gene methylenetetrahydrofolate reductase (MTHFR), which encodes for a key enzyme in one carbon metabolism, shows a high prevalence of ..
  59. Jakubowski H, Perla Kajan J, Finnell R, Cabrera R, Wang H, Gupta S, et al. Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice. FASEB J. 2009;23:1721-7 pubmed publisher
    ..severe hyperhomocysteinemia due to genetic alterations in cystathionine beta-synthase (Cbs) or methylenetetrahydrofolate reductase (Mthfr) results in neurological abnormalities and premature death from vascular complications...
  60. Fodil Cornu N, Kozij N, Wu Q, Rozen R, Vidal S. Methylenetetrahydrofolate reductase (MTHFR) deficiency enhances resistance against cytomegalovirus infection. Genes Immun. 2009;10:662-6 pubmed publisher
    ..To test the hypothesis that methylenetetrahydrofolate reductase (MTHFR) genotype influences the outcome of infectious disease, we examined the response of Mthfr-..
  61. Goyette P, Pai A, Milos R, Frosst P, Tran P, Chen Z, et al. Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Mamm Genome. 1998;9:652-6 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. A human cDNA for MTHFR, 2...