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Journal Abstract Search

390 related items for PubMed ID: 2365818

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

  • 2. 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; 87(5):1862-6. PubMed ID: 2022752
    [Abstract] [Full Text] [Related]

  • 3. [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; 41(5):484-91. PubMed ID: 8350511
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  • 4. 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; 8(1):39-47. PubMed ID: 1943689
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  • 5. 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; 87(4):1207-11. PubMed ID: 2010537
    [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. 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 06; 80(1):63-70. PubMed ID: 3597778
    [Abstract] [Full Text] [Related]

  • 8. Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex.
    Chuang DT, Fisher CW, Lau KS, Griffin TA, Wynn RM, Cox RP.
    Mol Biol Med; 1991 Feb 06; 8(1):49-63. PubMed ID: 1943690
    [Abstract] [Full Text] [Related]

  • 9. 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 06; 95(3):954-63. PubMed ID: 7883996
    [Abstract] [Full Text] [Related]

  • 10. 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 Mar 06; 30():245-63. PubMed ID: 2403034
    [Abstract] [Full Text] [Related]

  • 11. 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 Mar 06; 43(2):91-100. PubMed ID: 9621512
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  • 16. 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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  • 19. 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 Aug 05; 573():130-6. PubMed ID: 2634344
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