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Volumn 37, Issue 5, 2014, Pages 841-849

Characterization of functional domains of the cblD (MMADHC) gene product

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COBAMAMIDE; COENZYME; CYANOCOBALAMIN; METHYLMALONIC ACID; MMADHC PROTEIN, HUMAN;

EID: 84929997660     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9709-4     Document Type: Article
Times cited : (16)

References (24)
  • 1
    • 84876831304 scopus 로고    scopus 로고
    • Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E
    • PID: 23622402
    • Baumgartner MR (2013) Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. Handb Clin Neurol 113:1799–1810
    • (2013) Handb Clin Neurol , vol.113 , pp. 1799-1810
    • Baumgartner, M.R.1
  • 2
    • 0031030585 scopus 로고    scopus 로고
    • Human methionine synthase. cDNA cloning, gene localization, and expression
    • COI: 1:CAS:528:DyaK2sXhtFeqsrY%3D, PID: 9013615
    • Chen LH, Liu ML, Hwang HY, Chen LS, Korenberg J, Shane B (1997) Human methionine synthase. cDNA cloning, gene localization, and expression. J Biol Chem 272:3628–3634
    • (1997) J Biol Chem , vol.272 , pp. 3628-3634
    • Chen, L.H.1    Liu, M.L.2    Hwang, H.Y.3    Chen, L.S.4    Korenberg, J.5    Shane, B.6
  • 3
    • 41649092991 scopus 로고    scopus 로고
    • Gene identification for the cblD defect of vitamin B12 metabolism
    • COI: 1:CAS:528:DC%2BD1cXktlSrtLw%3D, PID: 18385497
    • Coelho D, Suormala T, Stucki M et al (2008) Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med 358:1454–1464
    • (2008) N Engl J Med , vol.358 , pp. 1454-1464
    • Coelho, D.1    Suormala, T.2    Stucki, M.3
  • 4
    • 84866937421 scopus 로고    scopus 로고
    • Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
    • COI: 1:CAS:528:DC%2BC38Xht1GhtrzO, PID: 22922874
    • Coelho D, Kim JC, Miousse IR et al (2012) Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet 44:1152–1155
    • (2012) Nat Genet , vol.44 , pp. 1152-1155
    • Coelho, D.1    Kim, J.C.2    Miousse, I.R.3
  • 5
    • 84867900632 scopus 로고    scopus 로고
    • Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism
    • COI: 1:CAS:528:DC%2BC38XhtVymtr7N, PID: 22832074
    • Deme JC, Miousse IR, Plesa M et al (2012) Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism. Mol Genet Metab 107:352–362
    • (2012) Mol Genet Metab , vol.107 , pp. 352-362
    • Deme, J.C.1    Miousse, I.R.2    Plesa, M.3
  • 6
    • 0037115485 scopus 로고    scopus 로고
    • Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria
    • COI: 1:CAS:528:DC%2BD38XpsFelsrY%3D, PID: 12471062
    • Dobson CM, Wai T, Leclerc D et al (2002a) Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Hum Mol Genet 11:3361–3369
    • (2002) Hum Mol Genet , vol.11 , pp. 3361-3369
    • Dobson, C.M.1    Wai, T.2    Leclerc, D.3
  • 7
    • 0037180440 scopus 로고    scopus 로고
    • Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements
    • COI: 1:CAS:528:DC%2BD3sXjvVyi, PID: 12438653
    • Dobson CM, Wai T, Leclerc D et al (2002b) Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proc Natl Acad Sci U S A 99:15554–15559
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 15554-15559
    • Dobson, C.M.1    Wai, T.2    Leclerc, D.3
  • 8
    • 0031780923 scopus 로고    scopus 로고
    • Post- and prenatal diagnostic methods for the homocystinurias
    • PID: 9587033
    • Fowler B, Jakobs C (1998) Post- and prenatal diagnostic methods for the homocystinurias. Eur J Pediatr 157(Suppl 2):S88–S93
    • (1998) Eur J Pediatr , vol.157 , pp. S88-S93
    • Fowler, B.1    Jakobs, C.2
  • 9
    • 79952302420 scopus 로고    scopus 로고
    • Genetic disorders of vitamin B metabolism: eight complementation groups–eight genes
    • PID: 21114891
    • Froese DS, Gravel RA (2010) Genetic disorders of vitamin B metabolism: eight complementation groups–eight genes. Expert Rev Mol Med 12:e37
    • (2010) Expert Rev Mol Med , vol.12 , pp. e37
    • Froese, D.S.1    Gravel, R.A.2
  • 10
    • 84875846186 scopus 로고    scopus 로고
    • The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning
    • COI: 1:CAS:528:DC%2BC3sXjt1agsr4%3D, PID: 23415655
    • Gherasim C, Hannibal L, Rajagopalan D, Jacobsen DW, Banerjee R (2013) The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning. Biochimie 95:1023–1032
    • (2013) Biochimie , vol.95 , pp. 1023-1032
    • Gherasim, C.1    Hannibal, L.2    Rajagopalan, D.3    Jacobsen, D.W.4    Banerjee, R.5
  • 11
    • 67649658036 scopus 로고    scopus 로고
    • Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product
    • COI: 1:CAS:528:DC%2BD1MXosV2ksrs%3D, PID: 19447654
    • Hannibal L, Kim J, Brasch NE, Wang S, Rosenblatt DS, Banerjee R, Jacobsen DW (2009) Processing of alkylcobalamins in mammalian cells: a role for the MMACHC (cblC) gene product. Mol Genet Metab 97:260–266
    • (2009) Mol Genet Metab , vol.97 , pp. 260-266
    • Hannibal, L.1    Kim, J.2    Brasch, N.E.3    Wang, S.4    Rosenblatt, D.S.5    Banerjee, R.6    Jacobsen, D.W.7
  • 12
    • 55749101940 scopus 로고    scopus 로고
    • Decyanation of vitamin B12 by a trafficking chaperone
    • COI: 1:CAS:528:DC%2BD1cXht1Sgt77J, PID: 18779575
    • Kim J, Gherasim C, Banerjee R (2008) Decyanation of vitamin B12 by a trafficking chaperone. Proc Natl Acad Sci U S A 105:14551–14554
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 14551-14554
    • Kim, J.1    Gherasim, C.2    Banerjee, R.3
  • 13
    • 10544249877 scopus 로고    scopus 로고
    • Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
    • COI: 1:CAS:528:DyaK28XnsFKlt78%3D, PID: 8968737
    • Leclerc D, Campeau E, Goyette P et al (1996) Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders. Hum Mol Genet 5:1867–1874
    • (1996) Hum Mol Genet , vol.5 , pp. 1867-1874
    • Leclerc, D.1    Campeau, E.2    Goyette, P.3
  • 14
    • 13144282730 scopus 로고    scopus 로고
    • Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria
    • COI: 1:CAS:528:DyaK1cXitV2isbw%3D, PID: 9501215
    • Leclerc D, Wilson A, Dumas R et al (1998) Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria. Proc Natl Acad Sci U S A 95:3059–3064
    • (1998) Proc Natl Acad Sci U S A , vol.95 , pp. 3059-3064
    • Leclerc, D.1    Wilson, A.2    Dumas, R.3
  • 15
    • 29444451094 scopus 로고    scopus 로고
    • Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
    • COI: 1:CAS:528:DC%2BD2MXhtlCmtr7L, PID: 16311595
    • Lerner-Ellis JP, Tirone JC, Pawelek PD et al (2006) Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet 38:93–100
    • (2006) Nat Genet , vol.38 , pp. 93-100
    • Lerner-Ellis, J.P.1    Tirone, J.C.2    Pawelek, P.D.3
  • 16
    • 0029822478 scopus 로고    scopus 로고
    • Cloning, mapping and RNA analysis of the human methionine synthase gene
    • COI: 1:CAS:528:DyaK28XnsFKltrc%3D, PID: 8968735
    • Li YN, Gulati S, Baker PJ, Brody LC, Banerjee R, Kruger WD (1996) Cloning, mapping and RNA analysis of the human methionine synthase gene. Hum Mol Genet 5:1851–1858
    • (1996) Hum Mol Genet , vol.5 , pp. 1851-1858
    • Li, Y.N.1    Gulati, S.2    Baker, P.J.3    Brody, L.C.4    Banerjee, R.5    Kruger, W.D.6
  • 17
    • 84872948077 scopus 로고    scopus 로고
    • Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism
    • COI: 1:CAS:528:DC%2BC38XhvV2rs7%2FF, PID: 23270877
    • Mah W, Deme JC, Watkins D et al (2013) Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. Mol Genet Metab 108:112–118
    • (2013) Mol Genet Metab , vol.108 , pp. 112-118
    • Mah, W.1    Deme, J.C.2    Watkins, D.3
  • 18
    • 0015108326 scopus 로고
    • Synthesis of cobalamin coenzymes by human cells in tissue culture
    • COI: 1:CAS:528:DyaE3MXltFKmu7o%3D, PID: 5567567
    • Mahoney MJ, Rosenberg LE (1971) Synthesis of cobalamin coenzymes by human cells in tissue culture. J Lab Clin Med 78:302–308
    • (1971) J Lab Clin Med , vol.78 , pp. 302-308
    • Mahoney, M.J.1    Rosenberg, L.E.2
  • 20
    • 84939889201 scopus 로고    scopus 로고
    • Severe neonatal metabolic decompensation in methylmalonic acidemia caused by CblD defect
    • COI: 1:STN:280:DC%2BC3snkvVyktw%3D%3D, PID: 23686626
    • Parini R, Furlan F, Brambilla A et al (2013) Severe neonatal metabolic decompensation in methylmalonic acidemia caused by CblD defect. JIMD Rep 11:133–137
    • (2013) JIMD Rep , vol.11 , pp. 133-137
    • Parini, R.1    Furlan, F.2    Brambilla, A.3
  • 21
    • 78651451693 scopus 로고    scopus 로고
    • Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B(1)(2) metabolism
    • COI: 1:CAS:528:DC%2BC3MXhvFSnsLk%3D, PID: 21071249
    • Plesa M, Kim J, Paquette SG et al (2011) Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B(1)(2) metabolism. Mol Genet Metab 102:139–148
    • (2011) Mol Genet Metab , vol.102 , pp. 139-148
    • Plesa, M.1    Kim, J.2    Paquette, S.G.3
  • 22
    • 59149091781 scopus 로고    scopus 로고
    • Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
    • COI: 1:CAS:528:DC%2BD1MXktVehsw%3D%3D, PID: 19136951
    • Rutsch F, Gailus S, Miousse IR et al (2009) Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet 41:234–239
    • (2009) Nat Genet , vol.41 , pp. 234-239
    • Rutsch, F.1    Gailus, S.2    Miousse, I.R.3
  • 23
    • 84857676447 scopus 로고    scopus 로고
    • Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism
    • COI: 1:CAS:528:DC%2BC38XivVeis70%3D, PID: 22156578
    • Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR (2012) Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. Hum Mol Genet 21:1410–1418
    • (2012) Hum Mol Genet , vol.21 , pp. 1410-1418
    • Stucki, M.1    Coelho, D.2    Suormala, T.3    Burda, P.4    Fowler, B.5    Baumgartner, M.R.6
  • 24
    • 5644298359 scopus 로고    scopus 로고
    • The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis
    • COI: 1:CAS:528:DC%2BD2cXotVOgsLc%3D, PID: 15292234
    • Suormala T, Baumgartner MR, Coelho D et al (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. J Biol Chem 279:42742–42749
    • (2004) J Biol Chem , vol.279 , pp. 42742-42749
    • Suormala, T.1    Baumgartner, M.R.2    Coelho, D.3


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