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Journal Abstract Search

159 related items for PubMed ID: 2634344

  • 1. 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; 573():130-6. PubMed ID: 2634344
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  • 3. 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; 30():245-63. PubMed ID: 2403034
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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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  • 6. 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
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  • 8. 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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  • 11. 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
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  • 13. Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification.
    Mitsubuchi H, Matsuda I, Nobukuni Y, Heidenreich R, Indo Y, Endo F, Mallee J, Segal S.
    J Inherit Metab Dis; 1992 Oct 30; 15(2):181-7. PubMed ID: 1356170
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  • 14. 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
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  • 18. 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. 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 05; 95(3):954-63. PubMed ID: 7883996
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  • 20. 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 05; 87(4):1207-11. PubMed ID: 2010537
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