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Volumn 58, Issue 1, 2004, Pages 47-55

Sulfur containing amino acids and human disease

Author keywords

Cysteine; Methionine; One carbon metabolism; Sulfuration

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYSTEINE; METHIONINE; METHIONINE SYNTHASE; SULFUR AMINO ACID; THIOL DERIVATIVE;

EID: 1642524273     PISSN: 07533322     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.biopha.2003.11.005     Document Type: Review
Times cited : (165)

References (73)
  • 1
    • 0024360321 scopus 로고
    • Phosphorylation modulates the activity of glycine N-methyltransferase, a folate binding protein. In vitro phosphorylation is inhibited by the natural folate ligand
    • Wagner C., Decha-Umphai W., Corbin J. Phosphorylation modulates the activity of glycine N-methyltransferase, a folate binding protein. In vitro phosphorylation is inhibited by the natural folate ligand. J Biol Chem. 264:(16):1989;9638-9642.
    • (1989) J Biol Chem , vol.264 , Issue.16 , pp. 9638-9642
    • Wagner, C.1    Decha-Umphai, W.2    Corbin, J.3
  • 2
    • 0023664009 scopus 로고
    • Allosteric inhibition of methylenetetrahydrofolate reductase by adenosylmethionine. Effects of adenosylmethionine and NADPH on the equilibrium between active and inactive forms of the enzyme and on the kinetics of approach to equilibrium
    • Jencks D.A., Mathews R.G. Allosteric inhibition of methylenetetrahydrofolate reductase by adenosylmethionine. Effects of adenosylmethionine and NADPH on the equilibrium between active and inactive forms of the enzyme and on the kinetics of approach to equilibrium. J Biol Chem. 262:(6):1987;2485-2493.
    • (1987) J Biol Chem , vol.262 , Issue.6 , pp. 2485-2493
    • Jencks, D.A.1    Mathews, R.G.2
  • 3
    • 0021867328 scopus 로고
    • Inhibition of glycine N-methyltransferase activity by folate derivatives: Implications for regulation of methyl group metabolism
    • Wagner C., Briggs W.T., Cook R.J. Inhibition of glycine N-methyltransferase activity by folate derivatives: implications for regulation of methyl group metabolism. Biochem Biophys Res Commun. 127:(3):1985;746-752.
    • (1985) Biochem Biophys Res Commun , vol.127 , Issue.3 , pp. 746-752
    • Wagner, C.1    Briggs, W.T.2    Cook, R.J.3
  • 4
    • 0014208254 scopus 로고
    • Feedback inhibition of methylene-tetrahydrofolate reductase in rat liver by S-adenosylmethionine
    • Kutzbach C., Stokstad E.L. Feedback inhibition of methylene- tetrahydrofolate reductase in rat liver by S-adenosylmethionine. Biochim Biophys Acta. 139:(1):1967;217-220.
    • (1967) Biochim Biophys Acta , vol.139 , Issue.1 , pp. 217-220
    • Kutzbach, C.1    Stokstad, E.L.2
  • 5
    • 0037733975 scopus 로고    scopus 로고
    • The importance of glutathione in human disease
    • Townsend D.M., Tew K.D., Tapiero H. The importance of glutathione in human disease. Biomed Pharmacother. 57:(3-4):2003;145-155.
    • (2003) Biomed Pharmacother , vol.57 , Issue.34 , pp. 145-155
    • Townsend, D.M.1    Tew, K.D.2    Tapiero, H.3
  • 6
    • 0033970043 scopus 로고    scopus 로고
    • Folate and carcinogenesis: An integrated scheme
    • Choi S.W., Mason J.B. Folate and carcinogenesis: an integrated scheme. J Nutr. 130:(2):2000;129-132.
    • (2000) J Nutr , vol.130 , Issue.2 , pp. 129-132
    • Choi, S.W.1    Mason, J.B.2
  • 7
    • 0037370532 scopus 로고    scopus 로고
    • Biomarkers of nutrient exposure and status in one-carbon (methyl) metabolism
    • Mason J.B. Biomarkers of nutrient exposure and status in one-carbon (methyl) metabolism. J Nutr. 133:(Suppl 3):2003;941S-947S.
    • (2003) J Nutr , vol.133 , Issue.SUPPL. 3
    • Mason, J.B.1
  • 8
    • 0014545138 scopus 로고
    • Vascular pathology of homocysteinemia: Implications for the pathogenesis of arteriosclerosis
    • McCully K.S. Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. Am J Pathol. 56:(1):1969;111-128.
    • (1969) Am J Pathol , vol.56 , Issue.1 , pp. 111-128
    • McCully, K.S.1
  • 9
    • 0025756673 scopus 로고
    • Hyperhomocysteinemia: An independent risk factor for vascular disease
    • Clarke R., Daly L., Robinson K., Naughten E., Cahalane S., Fowler B., et al. Hyperhomocysteinemia: an independent risk factor for vascular disease. N Engl J Med. 324:(17):1991;1149-1155.
    • (1991) N Engl J Med , vol.324 , Issue.17 , pp. 1149-1155
    • Clarke, R.1    Daly, L.2    Robinson, K.3    Naughten, E.4    Cahalane, S.5    Fowler, B.6
  • 10
    • 0026633925 scopus 로고
    • Hyperhomocyst(e)inemia as a risk factor for occlusive vascular disease
    • Kang S.S., Wong P.W.K., Malinow M.R. Hyperhomocyst(e)inemia as a risk factor for occlusive vascular disease. Ann Rev Nutr. 12:1992;279-298.
    • (1992) Ann Rev Nutr , vol.12 , pp. 279-298
    • Kang, S.S.1    Wong, P.W.K.2    Malinow, M.R.3
  • 11
    • 0034972871 scopus 로고    scopus 로고
    • Plasma total homocysteine and cardiovascular and noncardiovascular mortality: The Hordaland Homocysteine Study
    • Vollset S.E., Refsum H., Tverdal A., Nygard O., Nordrehaug J.E., Tell G.S., et al. Plasma total homocysteine and cardiovascular and noncardiovascular mortality: the Hordaland Homocysteine Study. Am J Clin Nutr. 74:(1):2001;130-136.
    • (2001) Am J Clin Nutr , vol.74 , Issue.1 , pp. 130-136
    • Vollset, S.E.1    Refsum, H.2    Tverdal, A.3    Nygard, O.4    Nordrehaug, J.E.5    Tell, G.S.6
  • 13
    • 0027392610 scopus 로고
    • Vitamin B-12, vitamin B-6, and folate nutritional status in men with hyperhomocysteinemia
    • Ubbink J.B., Vermaak W.J., van der Merwe A., Becker P.J. Vitamin B-12, vitamin B-6, and folate nutritional status in men with hyperhomocysteinemia. Am J Clin Nutr. 57:(1):1993;47-53.
    • (1993) Am J Clin Nutr , vol.57 , Issue.1 , pp. 47-53
    • Ubbink, J.B.1    Vermaak, W.J.2    Van Der Merwe, A.3    Becker, P.J.4
  • 14
    • 0033551352 scopus 로고    scopus 로고
    • The effect of folic acid fortification on plasma folate and total homocysteine concentrations
    • Jacques P.F., Selhub J., Bostom A.G., Wilson P.W., Rosenberg I.H. The effect of folic acid fortification on plasma folate and total homocysteine concentrations. N Engl J Med. 340:(19):1999;1449-1454.
    • (1999) N Engl J Med , vol.340 , Issue.19 , pp. 1449-1454
    • Jacques, P.F.1    Selhub, J.2    Bostom, A.G.3    Wilson, P.W.4    Rosenberg, I.H.5
  • 15
    • 0034040160 scopus 로고    scopus 로고
    • Dietary strategies for lowering homocysteine concentrations
    • Riddell L.J., Chisholm A., Williams S., Mann J.I. Dietary strategies for lowering homocysteine concentrations. Am J Clin Nutr. 71:(6):2000;1448-1454.
    • (2000) Am J Clin Nutr , vol.71 , Issue.6 , pp. 1448-1454
    • Riddell, L.J.1    Chisholm, A.2    Williams, S.3    Mann, J.I.4
  • 16
    • 0000343368 scopus 로고
    • Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland
    • Carson N.A. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch Dis Child. 37:1962;505-513.
    • (1962) Arch Dis Child , vol.37 , pp. 505-513
    • Carson, N.A.1
  • 18
    • 0021894152 scopus 로고
    • The natural history of homocystinuria due to cystathionine beta-synthase deficiency
    • Mudd S.H., Skovby F., Levy H.L., Pettigrew K.D., Wilcken B., Pyeritz R.E., et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet. 37:(1):1985;1-31.
    • (1985) Am J Hum Genet , vol.37 , Issue.1 , pp. 1-31
    • Mudd, S.H.1    Skovby, F.2    Levy, H.L.3    Pettigrew, K.D.4    Wilcken, B.5    Pyeritz, R.E.6
  • 19
    • 0017943560 scopus 로고
    • Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts
    • Fowler B., Kraus J., Packman S., Rosenberg L.E. Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts. J Clin Invest. 61:(3):1978;645-653.
    • (1978) J Clin Invest , vol.61 , Issue.3 , pp. 645-653
    • Fowler, B.1    Kraus, J.2    Packman, S.3    Rosenberg, L.E.4
  • 20
    • 0021288663 scopus 로고
    • Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids
    • Skovby F., Krassikoff N., Francke U. Assignment of the gene for cystathionine beta-synthase to human chromosome 21 in somatic cell hybrids. Hum Genet. 65:(3):1984;291-294.
    • (1984) Hum Genet , vol.65 , Issue.3 , pp. 291-294
    • Skovby, F.1    Krassikoff, N.2    Francke, U.3
  • 21
    • 0023939665 scopus 로고
    • The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17
    • Munke M., Kraus J.P., Ohura T., Francke U. The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am J Hum Genet. 42:(4):1988;550-559.
    • (1988) Am J Hum Genet , vol.42 , Issue.4 , pp. 550-559
    • Munke, M.1    Kraus, J.P.2    Ohura, T.3    Francke, U.4
  • 22
    • 0032531249 scopus 로고    scopus 로고
    • The human cystathionine beta-synthase (CBS) gene: Complete sequence, alternative splicing, and polymorphisms
    • Kraus J.P., Oliveriusova J., Sokolova J., Kraus E., Vlcek C., de Franchis R., et al. The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. Genomics. 52:(3):1998;312-324.
    • (1998) Genomics , vol.52 , Issue.3 , pp. 312-324
    • Kraus, J.P.1    Oliveriusova, J.2    Sokolova, J.3    Kraus, E.4    Vlcek, C.5    De Franchis, R.6
  • 24
    • 0028001103 scopus 로고
    • Komrower lecture. Molecular basis of phenotype expression in homocystinuria
    • Kraus J.P. Komrower lecture. Molecular basis of phenotype expression in homocystinuria. J Inherit Metab Dis. 17:(4):1994;383-390.
    • (1994) J Inherit Metab Dis , vol.17 , Issue.4 , pp. 383-390
    • Kraus, J.P.1
  • 25
    • 0023243363 scopus 로고
    • Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: Prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness
    • Abbott M.H., Folstein S.E., Abbey H., Pyeritz R.E. Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness. Am J Med Genet. 26:(4):1987;959-969.
    • (1987) Am J Med Genet , vol.26 , Issue.4 , pp. 959-969
    • Abbott, M.H.1    Folstein, S.E.2    Abbey, H.3    Pyeritz, R.E.4
  • 26
    • 0001586302 scopus 로고
    • Cystathioninuria: Nature of the defect
    • Frimpter G.W. Cystathioninuria: nature of the defect. Science. 149:(688):1965;1095-1096.
    • (1965) Science , vol.149 , Issue.688 , pp. 1095-1096
    • Frimpter, G.W.1
  • 27
    • 0018577113 scopus 로고
    • Review of metabolic screening program of children's hospital, Vancouver, British Columbia. 1971-1977
    • Wong L.T., Hardwick D.F., Applegarth D.A., Davidson A.G. Review of metabolic screening program of children's hospital, Vancouver, British Columbia. 1971-1977. Clin Biochem. 12:(5):1979;167-172.
    • (1979) Clin Biochem , vol.12 , Issue.5 , pp. 167-172
    • Wong, L.T.1    Hardwick, D.F.2    Applegarth, D.A.3    Davidson, A.G.4
  • 28
    • 1642476516 scopus 로고
    • An inborn error of metabolism with the urinary excretion of alpha-hydroxy-butyric acid and phenylpyruvic acid
    • Smith A.J., Strang L.B. An inborn error of metabolism with the urinary excretion of alpha-hydroxy-butyric acid and phenylpyruvic acid. Arch Dis Child. 33:1958;109-113.
    • (1958) Arch Dis Child , vol.33 , pp. 109-113
    • Smith, A.J.1    Strang, L.B.2
  • 29
    • 0034807941 scopus 로고    scopus 로고
    • Prevention of pathologies associated with oxidative stress and dietary intake deficiencies: Folate deficiency and requirements
    • Tapiero H., Tew K.D., Gaté L., Machover D. Prevention of pathologies associated with oxidative stress and dietary intake deficiencies: folate deficiency and requirements. Biomed Pharmacother. 55:2001;381-390.
    • (2001) Biomed Pharmacother , vol.55 , pp. 381-390
    • Tapiero, H.1    Tew, K.D.2    Gaté, L.3    MacHover, D.4
  • 30
    • 1642558200 scopus 로고
    • A new inborn error of metabolism: Folic acid responsive megaloblastic anemia, ataxia, mental retardation, and convulsions
    • [Abstract]
    • Luhby A.L., Cooperman J.M., Pesci-Bourel A. A new inborn error of metabolism: folic acid responsive megaloblastic anemia, ataxia, mental retardation, and convulsions. J Pediat. 67:1965;1052. [Abstract].
    • (1965) J Pediat , vol.67 , pp. 1052
    • Luhby, A.L.1    Cooperman, J.M.2    Pesci-Bourel, A.3
  • 31
    • 0014591579 scopus 로고
    • Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification
    • Lanzkowsky P., Erlandson M.E., Bezan A.I. Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification. Blood. 34:(4):1969;452-465.
    • (1969) Blood , vol.34 , Issue.4 , pp. 452-465
    • Lanzkowsky, P.1    Erlandson, M.E.2    Bezan, A.I.3
  • 32
    • 0001047679 scopus 로고
    • On cystic oxide, a new species of urinary calculus
    • Wollaston W.H. On cystic oxide, a new species of urinary calculus. Phil Trans Roy Soc Lond. 100:1810;223-230.
    • (1810) Phil Trans Roy Soc Lond , vol.100 , pp. 223-230
    • Wollaston, W.H.1
  • 33
    • 0028237714 scopus 로고
    • Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine
    • Calonge M.J., Gasparini P., Chillaron J., Chillon M., Gallucci M., Rousaud F., et al. Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet. 6:(4):1994;420-425.
    • (1994) Nat Genet , vol.6 , Issue.4 , pp. 420-425
    • Calonge, M.J.1    Gasparini, P.2    Chillaron, J.3    Chillon, M.4    Gallucci, M.5    Rousaud, F.6
  • 34
    • 0027276858 scopus 로고
    • Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport
    • Lee W.S., Wells R.G., Sabbag R.V., Mohandas T.K., Hediger M.A. Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport. J Clin Invest. 91:(5):1993;1959-1963.
    • (1993) J Clin Invest , vol.91 , Issue.5 , pp. 1959-1963
    • Lee, W.S.1    Wells, R.G.2    Sabbag, R.V.3    Mohandas, T.K.4    Hediger, M.A.5
  • 35
    • 0032821201 scopus 로고    scopus 로고
    • Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo+AT) of rBAT. International Cystinuria Consortium
    • Feliubadalo L., Font M., Purroy J., Rousaud F., Estivill X., Nunes V., et al. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo+AT) of rBAT. International Cystinuria Consortium. Nat Genet. 23:(1):1999;52-57.
    • (1999) Nat Genet , vol.23 , Issue.1 , pp. 52-57
    • Feliubadalo, L.1    Font, M.2    Purroy, J.3    Rousaud, F.4    Estivill, X.5    Nunes, V.6
  • 36
    • 13144282730 scopus 로고    scopus 로고
    • Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria
    • Leclerc D., Wilson A., Dumas R., Gafuik C., Song D., Watkins D., et al. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci USA. 95:(6):1998;3059-3064.
    • (1998) Proc Natl Acad Sci USA , vol.95 , Issue.6 , pp. 3059-3064
    • Leclerc, D.1    Wilson, A.2    Dumas, R.3    Gafuik, C.4    Song, D.5    Watkins, D.6
  • 37
    • 0032862179 scopus 로고    scopus 로고
    • Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism
    • Wilson A., Leclerc D., Rosenblatt D.S., Gravel R.A. Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism. Hum Mol Genet. 8:(11):1999;2009-2016.
    • (1999) Hum Mol Genet , vol.8 , Issue.11 , pp. 2009-2016
    • Wilson, A.1    Leclerc, D.2    Rosenblatt, D.S.3    Gravel, R.A.4
  • 38
    • 0032856882 scopus 로고    scopus 로고
    • A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida
    • Wilson A., Platt R., Wu Q., Leclerc D., Christensen B., Yang H., et al. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Molec Genet Metab. 67:1999;317-323.
    • (1999) Molec Genet Metab , vol.67 , pp. 317-323
    • Wilson, A.1    Platt, R.2    Wu, Q.3    Leclerc, D.4    Christensen, B.5    Yang, H.6
  • 39
    • 0033846999 scopus 로고    scopus 로고
    • Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome
    • Hobbs C.A., Sherman S.L., Yi P., Hopkins S.E., Torfs C.P., Hine R.J., et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet. 67:(3):2000;623-630.
    • (2000) Am J Hum Genet , vol.67 , Issue.3 , pp. 623-630
    • Hobbs, C.A.1    Sherman, S.L.2    Yi, P.3    Hopkins, S.E.4    Torfs, C.P.5    Hine, R.J.6
  • 40
    • 0032845227 scopus 로고    scopus 로고
    • Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome
    • James S.J., Pogribna M., Pogribny I.P., Melnyk S., Hine R.J., Gibson J.B., et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr. 70:(4):1999;495-501.
    • (1999) Am J Clin Nutr , vol.70 , Issue.4 , pp. 495-501
    • James, S.J.1    Pogribna, M.2    Pogribny, I.P.3    Melnyk, S.4    Hine, R.J.5    Gibson, J.B.6
  • 41
    • 0036844005 scopus 로고    scopus 로고
    • Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida
    • Doolin M.T., Barbaux S., McDonnell M., Hoess K., Whitehead A.S., Mitchell L.E. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am J Hum Genet. 71:(5):2002;1222-1226.
    • (2002) Am J Hum Genet , vol.71 , Issue.5 , pp. 1222-1226
    • Doolin, M.T.1    Barbaux, S.2    McDonnell, M.3    Hoess, K.4    Whitehead, A.S.5    Mitchell, L.E.6
  • 42
    • 0034739452 scopus 로고    scopus 로고
    • The human and mouse methylenetetrahydrofolate reductase (MTHFR) genes: Genomic organization, mRNA structure and linkage to the CLCN6 gene
    • Gaughan D.J., Barbaux S., Kluijtmans L.A., Whitehead A.S. The human and mouse methylenetetrahydrofolate reductase (MTHFR) genes: genomic organization, mRNA structure and linkage to the CLCN6 gene. Gene. 257:(2):2000;279-289.
    • (2000) Gene , vol.257 , Issue.2 , pp. 279-289
    • Gaughan, D.J.1    Barbaux, S.2    Kluijtmans, L.A.3    Whitehead, A.S.4
  • 43
    • 0034104282 scopus 로고    scopus 로고
    • Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria
    • Sibani S., Christensen B., O'Ferrall E., Saadi I., Hiou-Tim F., Rosenblatt D.S., et al. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat. 15:(3):2000;280-287.
    • (2000) Hum Mutat , vol.15 , Issue.3 , pp. 280-287
    • Sibani, S.1    Christensen, B.2    O'Ferrall, E.3    Saadi, I.4    Hiou-Tim, F.5    Rosenblatt, D.S.6
  • 44
    • 0029816188 scopus 로고    scopus 로고
    • Molecular genetics of methylenetetrahydrofolate reductase deficiency
    • Rozen R. Molecular genetics of methylenetetrahydrofolate reductase deficiency. J Inherit Metab Dis. 19:(5):1996;589-594.
    • (1996) J Inherit Metab Dis , vol.19 , Issue.5 , pp. 589-594
    • Rozen, R.1
  • 45
    • 0028487161 scopus 로고
    • Human methylenetetrahydrofolate reductase: Isolation of cDNA, mapping and mutation identification
    • Goyette P., Sumner J.S., Milos R., Duncan A.M., Rosenblatt D.S., Matthews R.G., et al. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nat Genet. 7:(2):1994;195-200.
    • (1994) Nat Genet , vol.7 , Issue.2 , pp. 195-200
    • Goyette, P.1    Sumner, J.S.2    Milos, R.3    Duncan, A.M.4    Rosenblatt, D.S.5    Matthews, R.G.6
  • 46
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
    • Frosst P., Blom H.J., Milos R., Goyette P., Sheppard C.A., Matthews R.G., et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 10:(1):1995;111-113.
    • (1995) Nat Genet , vol.10 , Issue.1 , pp. 111-113
    • Frosst, P.1    Blom, H.J.2    Milos, R.3    Goyette, P.4    Sheppard, C.A.5    Matthews, R.G.6
  • 47
    • 0031961002 scopus 로고    scopus 로고
    • Worldwide distribution of a common methylenetetrahydrofolate reductase mutation
    • Schneider J.A., Rees D.C., Liu Y.T., Clegg J.B. Worldwide distribution of a common methylenetetrahydrofolate reductase mutation. Am J Hum Genet. 62:(5):1998;1258-1260.
    • (1998) Am J Hum Genet , vol.62 , Issue.5 , pp. 1258-1260
    • Schneider, J.A.1    Rees, D.C.2    Liu, Y.T.3    Clegg, J.B.4
  • 48
    • 0005775025 scopus 로고    scopus 로고
    • The incidence of the gene for thermolabile methylene tetrahydrofolate reductase in African Americans
    • McAndrew P.E., Brandt J.T., Pearl D.K., Prior T.W. The incidence of the gene for thermolabile methylene tetrahydrofolate reductase in African Americans. Thromb Res. 83:(2):1996;195-198.
    • (1996) Thromb Res , vol.83 , Issue.2 , pp. 195-198
    • McAndrew, P.E.1    Brandt, J.T.2    Pearl, D.K.3    Prior, T.W.4
  • 49
    • 0032573077 scopus 로고    scopus 로고
    • A common mutation in the methylene-tetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells
    • Bragley P.J., Selhub J. A common mutation in the methylene- tetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells. Proc Natl Acad Sci USA. 95:1998;13217-13220.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 13217-13220
    • Bragley, P.J.1    Selhub, J.2
  • 50
    • 0037117501 scopus 로고    scopus 로고
    • A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status
    • Friso S., Choi S.W., Girelli D., Mason J.B., Dolnikowski G.G., Bagley P.J., et al. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci USA. 99:(8):2002;5606-5611.
    • (2002) Proc Natl Acad Sci USA , vol.99 , Issue.8 , pp. 5606-5611
    • Friso, S.1    Choi, S.W.2    Girelli, D.3    Mason, J.B.4    Dolnikowski, G.G.5    Bagley, P.J.6
  • 51
    • 0030027668 scopus 로고    scopus 로고
    • Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations
    • Jacques P.F., Bostom A.G., Williams R.R., Ellison R.C., Eckfeldt J.H., Rosenberg I.H., et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation. 93:(1):1996;7-9.
    • (1996) Circulation , vol.93 , Issue.1 , pp. 7-9
    • Jacques, P.F.1    Bostom, A.G.2    Williams, R.R.3    Ellison, R.C.4    Eckfeldt, J.H.5    Rosenberg, I.H.6
  • 52
    • 0029655724 scopus 로고    scopus 로고
    • Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease
    • Kluijtmans L.A., van den Heuvel L.P., Boers G.H., Frosst P., Stevens E.M., van Oost B.A., et al. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet. 58:(1):1996;35-41.
    • (1996) Am J Hum Genet , vol.58 , Issue.1 , pp. 35-41
    • Kluijtmans, L.A.1    Van Den Heuvel, L.P.2    Boers, G.H.3    Frosst, P.4    Stevens, E.M.5    Van Oost, B.A.6
  • 53
    • 0037163849 scopus 로고    scopus 로고
    • MTHFR 677C → T polymorphism and risk of coronary heart disease: A meta-analysis
    • Klerk M., Verhoef P., Clarke R., Blom H.J., Kok F.J., Schouten E.G. MTHFR 677C → T polymorphism and risk of coronary heart disease: a meta-analysis. JAMA. 288:(16):2002;2023-2031.
    • (2002) JAMA , vol.288 , Issue.16 , pp. 2023-2031
    • Klerk, M.1    Verhoef, P.2    Clarke, R.3    Blom, H.J.4    Kok, F.J.5    Schouten, E.G.6
  • 54
    • 0032937206 scopus 로고    scopus 로고
    • Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects
    • Christensen B., Arbour L., Tran P., Leclerc D., Sabbaghian N., Platt R., et al. Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am J Med Genet. 84:(2):1999;151-157.
    • (1999) Am J Med Genet , vol.84 , Issue.2 , pp. 151-157
    • Christensen, B.1    Arbour, L.2    Tran, P.3    Leclerc, D.4    Sabbaghian, N.5    Platt, R.6
  • 55
    • 0030018760 scopus 로고    scopus 로고
    • 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects
    • Ou C.Y., Stevenson R.E., Brown V.K., Schwartz C.E., Allen W.P., Khoury M.J., et al. 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet. 63:(4):1996;610-614.
    • (1996) Am J Med Genet , vol.63 , Issue.4 , pp. 610-614
    • Ou, C.Y.1    Stevenson, R.E.2    Brown, V.K.3    Schwartz, C.E.4    Allen, W.P.5    Khoury, M.J.6
  • 56
    • 0031429097 scopus 로고    scopus 로고
    • Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects
    • Mornet E., Muller F., Lenvoise-Furet A., Delezoide A.L., Col J.Y., Simon-Bouy B., et al. Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects. Hum Genet. 100:(5-6):1997;512-514.
    • (1997) Hum Genet , vol.100 , Issue.56 , pp. 512-514
    • Mornet, E.1    Muller, F.2    Lenvoise-Furet, A.3    Delezoide, A.L.4    Col, J.Y.5    Simon-Bouy, B.6
  • 57
    • 0031215455 scopus 로고    scopus 로고
    • The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group
    • Speer M.C., Worley G., Mackey J.F., Melvin E., Oakes W.J., George T.M. The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group. Neurogenetics. 1:(2):1997;149-150.
    • (1997) Neurogenetics , vol.1 , Issue.2 , pp. 149-150
    • Speer, M.C.1    Worley, G.2    MacKey, J.F.3    Melvin, E.4    Oakes, W.J.5    George, T.M.6
  • 58
    • 0029655527 scopus 로고    scopus 로고
    • Nutritional ecogenetics: Homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid
    • Motulsky A.G. Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. Am J Hum Genet. 58:(1):1996;17-20.
    • (1996) Am J Hum Genet , vol.58 , Issue.1 , pp. 17-20
    • Motulsky, A.G.1
  • 59
    • 0041385695 scopus 로고    scopus 로고
    • Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida
    • Pietrzyk J.J., Bik-Multanowski M., Sanak M., Twardowska M. Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida. J Appl Genet. 44:(1):2003;111-113.
    • (2003) J Appl Genet , vol.44 , Issue.1 , pp. 111-113
    • Pietrzyk, J.J.1    Bik-Multanowski, M.2    Sanak, M.3    Twardowska, M.4
  • 60
    • 0034969415 scopus 로고    scopus 로고
    • Homocysteine metabolism in children with Down syndrome: In vitro modulation
    • Pogribna M., Melnyk S., Pogribny I., Chango A., Yi P., James S.J. Homocysteine metabolism in children with Down syndrome: in vitro modulation. Am J Hum Genet. 69:(1):2001;88-95.
    • (2001) Am J Hum Genet , vol.69 , Issue.1 , pp. 88-95
    • Pogribna, M.1    Melnyk, S.2    Pogribny, I.3    Chango, A.4    Yi, P.5    James, S.J.6
  • 62
    • 0021956826 scopus 로고
    • Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome
    • Wisniewski K.E., Wisniewski H.M., Wen G.Y. Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome. Ann Neurol. 17:(3):1985;278-282.
    • (1985) Ann Neurol , vol.17 , Issue.3 , pp. 278-282
    • Wisniewski, K.E.1    Wisniewski, H.M.2    Wen, G.Y.3
  • 63
    • 0038653351 scopus 로고    scopus 로고
    • Homocysteine, apolipoproteine e and methylenetetrahydrofolate reductase in Alzheimer's disease and mild cognitive impairment
    • Religa D., Styczynska M., Peplonska B., Gabryelewicz T., Pfeffer A., Chodakowska M., et al. Homocysteine, apolipoproteine E and methylenetetrahydrofolate reductase in Alzheimer's disease and mild cognitive impairment. Dement Geriatr Cogn Disord. 16:(2):2003;64-70.
    • (2003) Dement Geriatr Cogn Disord , vol.16 , Issue.2 , pp. 64-70
    • Religa, D.1    Styczynska, M.2    Peplonska, B.3    Gabryelewicz, T.4    Pfeffer, A.5    Chodakowska, M.6
  • 64
    • 0020327457 scopus 로고
    • Methionine dependence in cancer cells - A review
    • Hoffman R.M. Methionine dependence in cancer cells - a review. In Vitro. 18:(5):1982;421-428.
    • (1982) In Vitro , vol.18 , Issue.5 , pp. 421-428
    • Hoffman, R.M.1
  • 65
    • 0021903915 scopus 로고
    • Altered methionine metabolism and transmethylation in cancer
    • Hoffman R.M. Altered methionine metabolism and transmethylation in cancer. Anticancer Res. 5:(1):1985;1-30.
    • (1985) Anticancer Res , vol.5 , Issue.1 , pp. 1-30
    • Hoffman, R.M.1
  • 66
    • 0025991781 scopus 로고
    • Changes in cobalamin metabolism are associated with the altered methionine auxotrophy of highly growth autonomous human melanoma cells
    • Liteplo R.G., Hipwell S.E., Rosenblatt D.S., Sillaots S., Lue-Shing H. Changes in cobalamin metabolism are associated with the altered methionine auxotrophy of highly growth autonomous human melanoma cells. J Cell Physiol. 149:(2):1991;332-338.
    • (1991) J Cell Physiol , vol.149 , Issue.2 , pp. 332-338
    • Liteplo, R.G.1    Hipwell, S.E.2    Rosenblatt, D.S.3    Sillaots, S.4    Lue-Shing, H.5
  • 67
    • 0019986451 scopus 로고
    • Methionine regulation of N-5-methyltetrahydrofolate: Homocysteine methyltransferase and its influence on the growth and protein synthesis in normal, neoplastic, and transformed cells in culture
    • Tautt J.W., Anuszewska E.L., Koziorowska J.H. Methionine regulation of N-5-methyltetrahydrofolate: homocysteine methyltransferase and its influence on the growth and protein synthesis in normal, neoplastic, and transformed cells in culture. J Natl Cancer Inst. 69:(1):1982;9-14.
    • (1982) J Natl Cancer Inst , vol.69 , Issue.1 , pp. 9-14
    • Tautt, J.W.1    Anuszewska, E.L.2    Koziorowska, J.H.3
  • 68
    • 0027997156 scopus 로고
    • Development and reversion of methionine dependence in a human glioma cell line: Relation to homocysteine remethylation and cobalamin status
    • Fiskerstrand T., Christensen B., Tysnes O.B., Ueland P.M., Refsum H. Development and reversion of methionine dependence in a human glioma cell line: relation to homocysteine remethylation and cobalamin status. Cancer Res. 54:(18):1994;4899-4906.
    • (1994) Cancer Res , vol.54 , Issue.18 , pp. 4899-4906
    • Fiskerstrand, T.1    Christensen, B.2    Tysnes, O.B.3    Ueland, P.M.4    Refsum, H.5
  • 69
    • 0034307306 scopus 로고    scopus 로고
    • Defects in methylthioadenosine phosphorylase are associated with but not responsible for methionine-dependent tumor cell growth
    • Tang B., Li Y.N., Kruger W.D. Defects in methylthioadenosine phosphorylase are associated with but not responsible for methionine-dependent tumor cell growth. Cancer Res. 60:(19):2000;5543-5547.
    • (2000) Cancer Res , vol.60 , Issue.19 , pp. 5543-5547
    • Tang, B.1    Li, Y.N.2    Kruger, W.D.3
  • 70
    • 0242478531 scopus 로고    scopus 로고
    • Methionine synthase reductase gene A66G polymorphism is associated with risk of colorectal cancer
    • Matsuo K., Hamajima N., Hirai T., Kato T., Inoue M., Takezaki T., et al. Methionine synthase reductase gene A66G polymorphism is associated with risk of colorectal cancer. Asian Pac J Cancer Prev. 3:(4):2002;353-359.
    • (2002) Asian Pac J Cancer Prev , vol.3 , Issue.4 , pp. 353-359
    • Matsuo, K.1    Hamajima, N.2    Hirai, T.3    Kato, T.4    Inoue, M.5    Takezaki, T.6
  • 71
    • 0036682379 scopus 로고    scopus 로고
    • Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors
    • Paz M.F., Avila S., Fraga M.F., Pollan M., Capella G., Peinado M.A., et al. Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors. Cancer Res. 62:(15):2002;4519-4524.
    • (2002) Cancer Res , vol.62 , Issue.15 , pp. 4519-4524
    • Paz, M.F.1    Avila, S.2    Fraga, M.F.3    Pollan, M.4    Capella, G.5    Peinado, M.A.6
  • 72
    • 0033607241 scopus 로고    scopus 로고
    • Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults
    • Skibola C.F., Smith M.T., Kane E., Roman E., Rollinson S., Cartwright R.A., et al. Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults. Proc Natl Acad Sci USA. 96:(22):1999;12810-12815.
    • (1999) Proc Natl Acad Sci USA , vol.96 , Issue.22 , pp. 12810-12815
    • Skibola, C.F.1    Smith, M.T.2    Kane, E.3    Roman, E.4    Rollinson, S.5    Cartwright, R.A.6
  • 73
    • 0035957379 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and risk of molecularly defined subtypes of childhood acute leukemia
    • Wiemels J.L., Smith R.N., Taylor G.M., Eden O.B., Alexander F.E., Greaves M.F. Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and risk of molecularly defined subtypes of childhood acute leukemia. Proc Natl Acad Sci USA. 98:(7):2001;4004-4009.
    • (2001) Proc Natl Acad Sci USA , vol.98 , Issue.7 , pp. 4004-4009
    • Wiemels, J.L.1    Smith, R.N.2    Taylor, G.M.3    Eden, O.B.4    Alexander, F.E.5    Greaves, M.F.6


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