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Journal Abstract Search

221 related items for PubMed ID: 2703538

  • 1. Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.
    Zhang B, Edenberg HJ, Crabb DW, Harris RA.
    J Clin Invest; 1989 Apr; 83(4):1425-9. PubMed ID: 2703538
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  • 2. 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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  • 3. 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
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  • 4. 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 May; 573():130-6. PubMed ID: 2634344
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  • 5. 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 May; 30():245-63. PubMed ID: 2403034
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  • 6. Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
    Fisher CR, Fisher CW, Chuang DT, Cox RP.
    Am J Hum Genet; 1991 Aug; 49(2):429-34. PubMed ID: 1867199
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  • 9. 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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  • 10. 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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  • 17. Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.
    Fisher CW, Fisher CR, Chuang JL, Lau KS, Chuang DT, Cox RP.
    Am J Hum Genet; 1993 Feb 30; 52(2):414-24. PubMed ID: 8430702
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  • 18. 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 30; 46(4):843-6. PubMed ID: 2316528
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  • 20. 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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