메뉴 건너뛰기




Volumn 11, Issue SUPPL 1, 1998, Pages

A common mutation among blacks with mut̄ methylmalonic aciduria

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 6P; ENZYME ACTIVITY; ETHNIC GROUP; GENE CLUSTER; GENE MUTATION; HUMAN; METHYLMALONIC ACIDURIA; PRIORITY JOURNAL; CASE REPORT; CELL CULTURE; CHEMISTRY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYMOLOGY; GENETICS; HOMOZYGOTE; MALE; MUTATION; NEGRO; NUCLEOTIDE SEQUENCE; POINT MUTATION; URINE;

EID: 0032251644     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110179     Document Type: Article
Times cited : (16)

References (24)
  • 1
    • 0039961488 scopus 로고
    • Metabolism of propionic acid in animal tissue. Properties of mammalian methylmalonyl CoA mutase.
    • Cannata JJ, Focesi A, Mazumder R, Ochoa S (1965) Metabolism of propionic acid in animal tissue. Properties of mammalian methylmalonyl CoA mutase. J Biol Chem 240:3249-3257.
    • (1965) J Biol Chem , vol.240 , pp. 3249-3257
    • Cannata, J.J.1    Focesi, A.2    Mazumder, R.3    Ochoa, S.4
  • 2
    • 0028122089 scopus 로고
    • Clustering of mutations in methylmalonyl CoA mutase associated with mut~ methylmalonic aci-demia
    • Crane AM, Ledley FD (1994) Clustering of mutations in methylmalonyl CoA mutase associated with mut~ methylmalonic aci-demia. Am J Hum Genet 55:42-50.
    • (1994) Am J Hum Genet , vol.55 , pp. 42-50
    • Crane, A.M.1    Ledley, F.D.2
  • 3
    • 0026710546 scopus 로고
    • Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase
    • Crane AM, Martin LS, Valle D, Ledley FD (1992) Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase. Hum Genet 89:259-264.
    • (1992) Hum Genet , vol.89 , pp. 259-264
    • Crane, A.M.1    Martin, L.S.2    Valle, D.3    Ledley, F.D.4
  • 4
    • 0028769662 scopus 로고
    • How a protein binds B12: A 3.0 A x-ray structure of B12-binding domains of methionine synthase.
    • Drennan CL, Huang S, Drummond JT, Matthews RG, Ludwig ML (1994) How a protein binds B12: A 3.0 A x-ray structure of B12-binding domains of methionine synthase. Science 266:1669-1674.
    • (1994) Science , vol.266 , pp. 1669-1674
    • Drennan, C.L.1    Huang, S.2    Drummond, J.T.3    Matthews, R.G.4    Ludwig, M.L.5
  • 5
    • 0000526332 scopus 로고
    • Inherited disorders of cobalamin transport and metabolism
    • In Scriver CR, Beaudet AL, Sly WS, Valle D.: The Metabolic and Molecular Bases of Inherited Disease.New York: McGraw-Hill
    • Fenton W, Rosenberg LE (1995) Inherited disorders of cobalamin transport and metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, pp 3129-3149.
    • (1995) , pp. 3129-3149
    • Fenton, W.1    Rosenberg, L.E.2
  • 6
    • 0024618232 scopus 로고
    • Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction
    • Jansen R, Kalousek F, Fenton WA, Rosenberg LE, Ledley FD (1989) Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction. Genomics 4:198-205.
    • (1989) Genomics , vol.4 , pp. 198-205
    • Jansen, R.1    Kalousek, F.2    Fenton, W.A.3    Rosenberg, L.E.4    Ledley, F.D.5
  • 7
    • 0019868002 scopus 로고
    • Immu-nochemical studies on cultured fibroblasts form patients with inherited methylmalonic acidemia
    • Kolhouse JF, Utley C, Fenton WA, Rosenberg LE (1981) Immu-nochemical studies on cultured fibroblasts form patients with inherited methylmalonic acidemia. Proc Natl Acad Sci USA 78:7737-7741.
    • (1981) Proc Natl Acad Sci USA , vol.78 , pp. 7737-7741
    • Kolhouse, J.F.1    Utley, C.2    Fenton, W.A.3    Rosenberg, L.E.4
  • 8
    • 0031030751 scopus 로고    scopus 로고
    • Mutation in Mut methylmalonic acidemia: Clinical and enzymatic correlations
    • Ledley FD, Rosenblatt DS (1997) Mutation in Mut methylmalonic acidemia: Clinical and enzymatic correlations. Hum Mutat 9:1-6.
    • (1997) Hum Mutat , vol.9 , pp. 1-6
    • Ledley, F.D.1    Rosenblatt, D.S.2
  • 10
    • 0025211899 scopus 로고
    • Mutation eliminating mitochondrial leader sequence of methylmalonyl CoA mutate causes mut methylmalonic aciduria
    • Ledley FD, Jansen R, Nham SU, Fenton WA, Rosenberg LE (1990) Mutation eliminating mitochondrial leader sequence of methylmalonyl CoA mutate causes mut methylmalonic aciduria. Proc Natl Acad Sci USA 87:3147-3150.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 3147-3150
    • Ledley, F.D.1    Jansen, R.2    Nham, S.U.3    Fenton, W.A.4    Rosenberg, L.E.5
  • 11
    • 0023881189 scopus 로고
    • Newborn urine screening experience with over one million infants in Quebec network of genetic medicine
    • Lemieux B, Auray-Bay C, Guiguere R, Shapeon D, Scriver CR (1988) Newborn urine screening experience with over one million infants in Quebec network of genetic medicine. J Inher Metab Dis 11:45-55.
    • (1988) J Inher Metab Dis , vol.11 , pp. 45-55
    • Lemieux, B.1    Auray-Bay, C.2    Guiguere, R.3    Shapeon, D.4    Scriver, C.R.5
  • 12
    • 0025606161 scopus 로고
    • Structure of the human methylmalonyl CoA mutase.(MUT)locus
    • Nham SU, Wilkemeyer MF, Ledley FD (1990) Structure of the human methylmalonyl CoA mutase (MUT) locus. Genomics 8: 710-716.
    • (1990) Genomics , vol.8 , pp. 710-716
    • Nham, S.U.1    Wilkemeyer, M.F.2    Ledley, F.D.3
  • 13
    • 2542598909 scopus 로고
    • Molecular analysis of methylmalonic aciduria; identification of novel mutation in the methylmalonyl CoA mutase gene with decreased level of mutant mRNA
    • Ogasawara M, Matsubara Y, Mikami H, Narisawa K (1994a) Molecular analysis of methylmalonic aciduria; identification of novel mutation in the methylmalonyl CoA mutase gene with decreased level of mutant mRNA. Am J Hum Genet 55:A233.
    • (1994) Am J Hum Genet , vol.55
    • Ogasawara, M.1    Matsubara, Y.2    Mikami, H.3    Narisawa, K.4
  • 14
    • 0028246680 scopus 로고
    • Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia
    • Ogasawara M, Matsubara Y, Mikami H, Narisawa KK (1994b) Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. Hum Mol Genet 3:867-872.
    • (1994) Hum Mol Genet , vol.3 , pp. 867-872
    • Ogasawara, M.1    Matsubara, Y.2    Mikami, H.3    Narisawa, K.K.4
  • 15
    • 0028221493 scopus 로고
    • Cloning and expression of mutations demonstrating intragenic complementation in mut methylmalonic aciduria
    • Qureshi AA, Crane AM, Matiaszuk NV, Rezvani I, Ledley FD, Rosenblatt DS (1994) Cloning and expression of mutations demonstrating intragenic complementation in mut methylmalonic aciduria. J Clin Invest 93:1812-1819.
    • (1994) J Clin Invest , vol.93 , pp. 1812-1819
    • Qureshi, A.A.1    Crane, A.M.2    Matiaszuk, N.V.3    Rezvani, I.4    Ledley, F.D.5    Rosenblatt, D.S.6
  • 16
    • 0025971495 scopus 로고
    • Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut and mut" methylmalonic aciduria by interallelic complementation
    • Raff ML, Crane AM, Jansen R, Ledley FD, Rosenblatt DS (1991) Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut and mut" methylmalonic aciduria by interallelic complementation. J Clin Invest 87:203-207.
    • (1991) J Clin Invest , vol.87 , pp. 203-207
    • Raff, M.L.1    Crane, A.M.2    Jansen, R.3    Ledley, F.D.4    Rosenblatt, D.S.5
  • 18
    • 0025892868 scopus 로고
    • Ketoacidotic crisis as a presentation of benign methylmalonic aciduria
    • Shapira SK, Ledley FD, Rosenblatt DS, Levy HL (1991) Ketoacidotic crisis as a presentation of benign methylmalonic aciduria. J Pediatr 119:80-84.
    • (1991) J Pediatr , vol.119 , pp. 80-84
    • Shapira, S.K.1    Ledley, F.D.2    Rosenblatt, D.S.3    Levy, H.L.4
  • 19
    • 0002559401 scopus 로고
    • Methylmalonic aciduria: A new inborn error of metabolism which may cause fatal acidosis in the neonatal period
    • Stokke O, Eldjarn L, Norum KR, Steen-Johnsen J, Halvorsen S (1967) Methylmalonic aciduria: A new inborn error of metabolism which may cause fatal acidosis in the neonatal period. Scand J Clin Lab Invest 20:313-318.
    • (1967) Scand J Clin Lab Invest , vol.20 , pp. 313-318
    • Stokke, O.1    Eldjarn, L.2    Norum, KR.3    Steen-Johnsen, J.4    Halvorsen, S.5
  • 20
    • 0029319397 scopus 로고
    • Molecular diagnosis of a kindred with novel mutation of methylmalonyl CoA mutase gene using non-RI SSCE Jpn
    • Toyo-Oka Y, Wada C, Ohnuki Y, Takada F, Ohtani H (1995) Molecular diagnosis of a kindred with novel mutation of methylmalonyl CoA mutase gene using non-RI SSCE Jpn .J Clin Pathol 43:625-629.
    • (1995) J Clin Pathol , vol.43 , pp. 625-629
    • Toyo-Oka, Y.1    Wada, C.2    Ohnuki, Y.3    Takada, F.4    Ohtani, H.5
  • 21
    • 0027468023 scopus 로고
    • Methylmalonic acidemia with a severe chemical but benign clinical phenotype
    • Treacy E, Clow C, Mamer OA, Scriver CR (1993) Methylmalonic acidemia with a severe chemical but benign clinical phenotype. J Pediatr 122:428-429.
    • (1993) J Pediatr , vol.122 , pp. 428-429
    • Treacy, E.1    Clow, C.2    Mamer, O.A.3    Scriver, C.R.4
  • 23
    • 0017742478 scopus 로고
    • Inherited deficiencies of human methylmalonyl CoA mutase activity: Reduced affinity of mutant apoenzyme for adenosylcobalamin
    • Willard HF, Rosenberg LE (1977) Inherited deficiencies of human methylmalonyl CoA mutase activity: Reduced affinity of mutant apoenzyme for adenosylcobalamin. Biochem Biophys Res Commun 78:927-934.
    • (1977) Biochem Biophys Res Commun , vol.78 , pp. 927-934
    • Willard, H.F.1    Rosenberg, L.E.2
  • 24
    • 84912328853 scopus 로고
    • Inherited deficiencies of human methylmalonyl CoA mutaste: Biochemical and genetic studies in cultured skin fibroblasts
    • In Hommes RA ed: "Methods for the Study of Inborn Errors of Metabolism." New York: Elsevier
    • Willard HF, Rosenberg LE (1979) Inherited deficiencies of human methylmalonyl CoA mutaste: Biochemical and genetic studies in cultured skin fibroblasts. In Hommes RA ed: "Methods for the Study of Inborn Errors of Metabolism." New York: Elsevier, pp 297-311.
    • (1979) , pp. 297-311
    • Willard, H.F.1    Rosenberg, L.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.