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163 related items for PubMed ID: 3224821

  • 1. Nucleotide and deduced amino acid sequence of the E1 alpha subunit of human liver branched-chain alpha-ketoacid dehydrogenase.
    Zhang B, Crabb DW, Harris RA.
    Gene; 1988 Sep 15; 69(1):159-64. PubMed ID: 3224821
    [Abstract] [Full Text] [Related]

  • 2. 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 15; 86(1):242-7. PubMed ID: 2365818
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
    Harris RA, Zhang B, Goodwin GW, Kuntz MJ, Shimomura Y, Rougraff P, Dexter P, Zhao Y, Gibson R, Crabb DW.
    Adv Enzyme Regul; 1990 Jun 25; 30():245-63. PubMed ID: 2403034
    [Abstract] [Full Text] [Related]

  • 5. Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.
    Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Yoshioka A, Matsuda I.
    J Clin Invest; 1991 May 25; 87(5):1862-6. PubMed ID: 2022752
    [Abstract] [Full Text] [Related]

  • 6. Isolation and characterization of a complementary DNA clone coding for the E1 beta subunit of the bovine branched-chain alpha-ketoacid dehydrogenase complex: complete amino acid sequence of the precursor protein and its proteolytic processing.
    Nobukuni Y, Mitsubuchi H, Endo F, Asaka J, Oyama R, Titani K, Matsuda I.
    Biochemistry; 1990 Feb 06; 29(5):1154-60. PubMed ID: 2322554
    [Abstract] [Full Text] [Related]

  • 7. Molecular cloning of a cDNA for the E1 alpha subunit of rat liver branched chain alpha-ketoacid dehydrogenase.
    Zhang B, Kuntz MJ, Goodwin GW, Harris RA, Crabb DW.
    J Biol Chem; 1987 Nov 05; 262(31):15220-4. PubMed ID: 2822716
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.
    Matsuda I, Nobukuni Y, Mitsubuchi H, Indo Y, Endo F, Asaka J, Harada A.
    Biochem Biophys Res Commun; 1990 Oct 30; 172(2):646-51. PubMed ID: 2241958
    [Abstract] [Full Text] [Related]

  • 10. Premature translation termination of the pre-E1 alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in Polled Hereford calves.
    Zhang B, Healy PJ, Zhao Y, Crabb DW, Harris RA.
    J Biol Chem; 1990 Feb 15; 265(5):2425-7. PubMed ID: 2303405
    [Abstract] [Full Text] [Related]

  • 11. cDNA cloning of the E1 alpha subunit of the branched-chain alpha-keto acid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
    Zhang B, Kuntz MJ, Goodwin GW, Edenberg HJ, Crabb DW, Harris RA.
    Ann N Y Acad Sci; 1989 Feb 15; 573():130-6. PubMed ID: 2634344
    [Abstract] [Full Text] [Related]

  • 12. Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease.
    Zhang B, Wappner RS, Brandt IK, Harris RA, Crabb DW.
    Am J Hum Genet; 1990 Apr 15; 46(4):843-6. PubMed ID: 2316528
    [Abstract] [Full Text] [Related]

  • 13. Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region.
    Mitsubuchi H, Nobukuni Y, Akaboshi I, Indo Y, Endo F, Matsuda I.
    J Clin Invest; 1991 Apr 15; 87(4):1207-11. PubMed ID: 2010537
    [Abstract] [Full Text] [Related]

  • 14. Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease.
    Zhang B, Zhao Y, Harris RA, Crabb DW.
    Mol Biol Med; 1991 Feb 15; 8(1):39-47. PubMed ID: 1943689
    [Abstract] [Full Text] [Related]

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  • 16. Similarity of the E1 subunits of branched-chain-oxoacid dehydrogenase from Pseudomonas putida to the corresponding subunits of mammalian branched-chain-oxoacid and pyruvate dehydrogenases.
    Burns G, Brown T, Hatter K, Idriss JM, Sokatch JR.
    Eur J Biochem; 1988 Sep 15; 176(2):311-7. PubMed ID: 3416875
    [Abstract] [Full Text] [Related]

  • 17. Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.
    Hayashida Y, Mitsubuchi H, Indo Y, Ohta K, Endo F, Wada Y, Matsuda I.
    Biochim Biophys Acta; 1994 Feb 22; 1225(3):317-25. PubMed ID: 8312380
    [Abstract] [Full Text] [Related]

  • 18. Molecular cloning of the E1 beta subunit of the rat branched chain alpha-ketoacid dehydrogenase.
    Zhao Y, Kuntz MJ, Harris RA, Crabb DW.
    Biochim Biophys Acta; 1992 Sep 24; 1132(2):207-10. PubMed ID: 1390893
    [No Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.
    Dariush N, Fisher CW, Cox RP, Chuang DT.
    FEBS Lett; 1991 Jun 17; 284(1):34-8. PubMed ID: 2060625
    [Abstract] [Full Text] [Related]

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