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Volumn 358, Issue 14, 2008, Pages 1454-1464

Gene identification for the cblD defect of vitamin B12 metabolism

Author keywords

[No Author keywords available]

Indexed keywords

COBAMAMIDE; CYANOCOBALAMIN; MECOBALAMIN;

EID: 41649092991     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa072200     Document Type: Article
Times cited : (143)

References (26)
  • 1
    • 0001912321 scopus 로고    scopus 로고
    • Inherited disorders of folate and cobalamin transport and metabolism
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds, 8th ed. New York: McGraw-Hill
    • Rosenblatt D, Fenton WA. Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:3897-933.
    • (2001) The metabolic and molecular bases of inherited disease , pp. 3897-3933
    • Rosenblatt, D.1    Fenton, W.A.2
  • 2
    • 5644298359 scopus 로고    scopus 로고
    • The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis
    • Suormala T, Baumgartner MR, Coelho D, et al. The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. J Biol Chem 2004;279:42742-9.
    • (2004) J Biol Chem , vol.279 , pp. 42742-42749
    • Suormala, T.1    Baumgartner, M.R.2    Coelho, D.3
  • 3
    • 0025299440 scopus 로고
    • Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells
    • Cooper BA, Rosenblatt DS, Watkins D. Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells. Am J Hematol 1990;34:115-20.
    • (1990) Am J Hematol , vol.34 , pp. 115-120
    • Cooper, B.A.1    Rosenblatt, D.S.2    Watkins, D.3
  • 4
    • 0021742271 scopus 로고
    • Efficient transfer of cloned DNA into human diploid cells: Protoplast fusion in suspension
    • Litzkas P, Jha KK, Ozer HL. Efficient transfer of cloned DNA into human diploid cells: protoplast fusion in suspension. Mol Cell Biol 1984;4:2549-52.
    • (1984) Mol Cell Biol , vol.4 , pp. 2549-2552
    • Litzkas, P.1    Jha, K.K.2    Ozer, H.L.3
  • 5
    • 0017821131 scopus 로고
    • Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: Evidence for a new class of human cobalamin mutant
    • Willard HF, Mellman IS, Rosenberg LE. Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant. Am J Hum Genet 1978;30:1-13.
    • (1978) Am J Hum Genet , vol.30 , pp. 1-13
    • Willard, H.F.1    Mellman, I.S.2    Rosenberg, L.E.3
  • 6
    • 0033938389 scopus 로고    scopus 로고
    • Complementation studies in the cblA class of inborn error of cobalamin metabolism: Evidence for interallelic complementation and for a new complementation class (cblH)
    • Watkins D, Matiaszuk N, Rosenblatt DS. Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH). J Med Genet 2000;37:510-3.
    • (2000) J Med Genet , vol.37 , pp. 510-513
    • Watkins, D.1    Matiaszuk, N.2    Rosenblatt, D.S.3
  • 7
    • 0029012429 scopus 로고
    • Construction and characterization of a highly stable human:rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies
    • Cuthbert AP, Trott DA, Ekong RM, et al. Construction and characterization of a highly stable human:rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies. Cytogenet Cell Genet 1995;71:68-76.
    • (1995) Cytogenet Cell Genet , vol.71 , pp. 68-76
    • Cuthbert, A.P.1    Trott, D.A.2    Ekong, R.M.3
  • 8
    • 0030200702 scopus 로고    scopus 로고
    • Evaluation of phenotypic alterations by microcell-mediated chromosome transfer
    • Hunt JD. Evaluation of phenotypic alterations by microcell-mediated chromosome transfer. Anal Biochem 1996;238:107-16.
    • (1996) Anal Biochem , vol.238 , pp. 107-116
    • Hunt, J.D.1
  • 9
    • 0020574105 scopus 로고
    • Organization of the R family and other interspersed repetitive DNA sequences in the mouse genome
    • Gebhard W, Zachau HG. Organization of the R family and other interspersed repetitive DNA sequences in the mouse genome. J Mol Biol 1983;170:255-70.
    • (1983) J Mol Biol , vol.170 , pp. 255-270
    • Gebhard, W.1    Zachau, H.G.2
  • 10
    • 1242316273 scopus 로고    scopus 로고
    • Quantitative PCR for DNA identification based on genome-specific interspersed repetitive elements
    • Walker JA, Hugues DA, Hedges DJ, et al. Quantitative PCR for DNA identification based on genome-specific interspersed repetitive elements. Genomics 2004;83:518-27.
    • (2004) Genomics , vol.83 , pp. 518-527
    • Walker, J.A.1    Hugues, D.A.2    Hedges, D.J.3
  • 11
    • 0035114251 scopus 로고    scopus 로고
    • The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
    • Baumgartner MR, Almashanu S, Suormala T, et al. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest 2001;107:495-504.
    • (2001) J Clin Invest , vol.107 , pp. 495-504
    • Baumgartner, M.R.1    Almashanu, S.2    Suormala, T.3
  • 13
    • 0020030117 scopus 로고
    • Abnormal deoxyuridine supression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: Divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man
    • Carmel R, Goodman SI. Abnormal deoxyuridine supression test in congenital methylmalonic aciduria-homocystinuria without megaloblastic anemia: divergent biochemical and morphological bone marrow manifestations of disordered cobalamin metabolism in man. Blood 1982;59:306-11.
    • (1982) Blood , vol.59 , pp. 306-311
    • Carmel, R.1    Goodman, S.I.2
  • 14
    • 0027399530 scopus 로고    scopus 로고
    • Gish W, States DJ. Identification of protein coding regions by database similarity search. Nat Genet 1993;3:266-72.
    • Gish W, States DJ. Identification of protein coding regions by database similarity search. Nat Genet 1993;3:266-72.
  • 15
    • 0037052565 scopus 로고    scopus 로고
    • The E.coli BtuCD structure: A framework for ABC transporter architecture and mechanism
    • Locher KP, Tee AT, Rees DC. The E.coli BtuCD structure: a framework for ABC transporter architecture and mechanism. Science 2002;296:1091-8.
    • (2002) Science , vol.296 , pp. 1091-1098
    • Locher, K.P.1    Tee, A.T.2    Rees, D.C.3
  • 16
    • 0029915525 scopus 로고    scopus 로고
    • Computational method to predict mitochondrially imported proteins and their targeting sequences
    • Claros MG, Vincens P. Computational method to predict mitochondrially imported proteins and their targeting sequences. Eur J Biochem 1996;241:779-86.
    • (1996) Eur J Biochem , vol.241 , pp. 779-786
    • Claros, M.G.1    Vincens, P.2
  • 18
    • 0031046735 scopus 로고    scopus 로고
    • Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells
    • Zhang J, Maquat LE. Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells. EMBO J 1997;16:826-33.
    • (1997) EMBO J , vol.16 , pp. 826-833
    • Zhang, J.1    Maquat, L.E.2
  • 19
    • 0022552131 scopus 로고
    • Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes
    • Kozak M. Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 1986;44:283-92.
    • (1986) Cell , vol.44 , pp. 283-292
    • Kozak, M.1
  • 20
    • 0037371866 scopus 로고    scopus 로고
    • Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia
    • Tanner SM, Aminoff M, Wright FA, et al. Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. Nat Genet 2003;33:426-9.
    • (2003) Nat Genet , vol.33 , pp. 426-429
    • Tanner, S.M.1    Aminoff, M.2    Wright, F.A.3
  • 21
    • 2642580983 scopus 로고    scopus 로고
    • Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency
    • Cosma MP, Pepe S, Parenti G, et al. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Hum Mutat 2004;23:576-81.
    • (2004) Hum Mutat , vol.23 , pp. 576-581
    • Cosma, M.P.1    Pepe, S.2    Parenti, G.3
  • 22
    • 0037052496 scopus 로고    scopus 로고
    • Structural biology: Not just another ABC transporter
    • Davidson AL. Structural biology: not just another ABC transporter. Science 2002;296:1038-40.
    • (2002) Science , vol.296 , pp. 1038-1040
    • Davidson, A.L.1
  • 23
    • 0016712826 scopus 로고
    • Methylmalonicacidemia: Biochemical heterogeneity in defects of 5′-deoxyadenosylcobalamin synthesis
    • Mahoney MJ, Hart AC, Steen VD, Rosenberg LE. Methylmalonicacidemia: biochemical heterogeneity in defects of 5′-deoxyadenosylcobalamin synthesis. Proc Natl Acad Sci U S A 1975;72:2799-803.
    • (1975) Proc Natl Acad Sci U S A , vol.72 , pp. 2799-2803
    • Mahoney, M.J.1    Hart, A.C.2    Steen, V.D.3    Rosenberg, L.E.4
  • 24
    • 0018198219 scopus 로고
    • Mitochondrial metabolism of hydroxocobalamin: Synthesis of adenosylcobalamin by intact rat liver mitochondria
    • Fenton WA, Rosenberg LE. Mitochondrial metabolism of hydroxocobalamin: synthesis of adenosylcobalamin by intact rat liver mitochondria. Arch Biochem Biophys 1978;189:441-7.
    • (1978) Arch Biochem Biophys , vol.189 , pp. 441-447
    • Fenton, W.A.1    Rosenberg, L.E.2
  • 25
    • 33744780736 scopus 로고    scopus 로고
    • Outer membrane active transport: Structure of the BtuB:TonB complex
    • Shultis DD, Purdy MD, Banchs CN, Wiener MC. Outer membrane active transport: structure of the BtuB:TonB complex. Science 2006;312:1396-9.
    • (2006) Science , vol.312 , pp. 1396-1399
    • Shultis, D.D.1    Purdy, M.D.2    Banchs, C.N.3    Wiener, M.C.4
  • 26
    • 29444451094 scopus 로고    scopus 로고
    • Lerner-Ellis JP, Tirone JC, Pawelek PD, et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet 2006;38:93-100. [Erratum, Nat Genet 2006;38:957.]
    • Lerner-Ellis JP, Tirone JC, Pawelek PD, et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet 2006;38:93-100. [Erratum, Nat Genet 2006;38:957.]


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