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Journal Abstract Search

196 related items for PubMed ID: 1867199

  • 21. Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex.
    Fisher CW, Chuang JL, Griffin TA, Lau KS, Cox RP, Chuang DT.
    J Biol Chem; 1989 Feb 25; 264(6):3448-53. PubMed ID: 2914958
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  • 22. Maple syrup urine disease: it has come a long way.
    Chuang DT.
    J Pediatr; 1998 Mar 25; 132(3 Pt 2):S17-23. PubMed ID: 9546032
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  • 23. Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.
    Nobukuni Y, Mitsubuchi H, Endo F, Akaboshi I, Asaka J, Matsuda I.
    J Clin Invest; 1990 Jul 25; 86(1):242-7. PubMed ID: 2365818
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  • 24. Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients.
    Chuang JL, Davie JR, Chinsky JM, Wynn RM, Cox RP, Chuang DT.
    J Clin Invest; 1995 Mar 25; 95(3):954-63. PubMed ID: 7883996
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  • 25. [Gene analysis of maple syrup urine disease (MSUD)].
    Mitsubuchi H, Nobukuni Y, Hayashida Y, Ohta K, Indo Y, Akaboshi I, Endo F, Matsuda I.
    Rinsho Byori; 1993 May 25; 41(5):484-91. PubMed ID: 8350511
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  • 26. Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.
    AEvarsson A, Chuang JL, Wynn RM, Turley S, Chuang DT, Hol WG.
    Structure; 2000 Mar 15; 8(3):277-91. PubMed ID: 10745006
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  • 27. A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.
    Chinsky J, Appel M, Almashanu S, Costeas P, Ambulos N, Carmi R.
    Hum Mutat; 1998 Mar 15; 12(2):136. PubMed ID: 10694918
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  • 28. Isolation and sequencing of a cDNA encoding the decarboxylase (E1)alpha precursor of bovine branched-chain alpha-keto acid dehydrogenase complex. Expression of E1 alpha mRNA and subunit in maple-syrup-urine-disease and 3T3-L1 cells.
    Hu CW, Lau KS, Griffin TA, Chuang JL, Fisher CW, Cox RP, Chuang DT.
    J Biol Chem; 1988 Jun 25; 263(18):9007-14. PubMed ID: 3379058
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  • 30. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
    Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.
    J Hum Genet; 1998 Jun 25; 43(2):91-100. PubMed ID: 9621512
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  • 32. Structural organization and chromosomal localization of the gene for the E1 beta subunit of human branched chain alpha-keto acid dehydrogenase.
    Mitsubuchi H, Nobukuni Y, Endo F, Matsuda I.
    J Biol Chem; 1991 Aug 05; 266(22):14686-91. PubMed ID: 1860867
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  • 33. Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.
    Indo Y, Kitano A, Endo F, Akaboshi I, Matsuda I.
    J Clin Invest; 1987 Jul 05; 80(1):63-70. PubMed ID: 3597778
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  • 35. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.
    Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA.
    Am J Hum Genet; 2001 Oct 05; 69(4):863-8. PubMed ID: 11509994
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  • 36. Molecular genetic characterization of maple syrup urine disease in European families.
    Peinemann F, Wendel U, Danner DJ.
    Biochem Med Metab Biol; 1993 Dec 05; 50(3):338-45. PubMed ID: 8123297
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