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Journal Abstract Search

128 related items for PubMed ID: 10989453

  • 1. Targeting E3 component of alpha-keto acid dehydrogenase complexes.
    Johnson MT, Yang HS, Patel MS.
    Methods Enzymol; 2000; 324():465-76. PubMed ID: 10989453
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  • 2. Genetic defects in E3 component of alpha-keto acid dehydrogenase complexes.
    Patel MS, Hong YS, Kerr DS.
    Methods Enzymol; 2000; 324():453-64. PubMed ID: 10989452
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  • 3. [Maple syrup urine disease: molecular pathology of the branched chain alpha-keto acid dehydrogenase complex].
    Nobukuni Y, Mitsubuchi H, Indo Y, Endo F, Matsuda I.
    Seikagaku; 1992 Feb; 64(2):67-82. PubMed ID: 1593184
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  • 4. Molecular genetic basis for inherited human disorders of branched-chain alpha-keto acid dehydrogenase complex.
    Danner DJ, Litwer S, Herring WJ, Elsas LJ.
    Ann N Y Acad Sci; 1989 Feb; 573():369-77. PubMed ID: 2699404
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  • 6. [Maple syrup urine disease].
    Matsuda I.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):585-8. PubMed ID: 3270867
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  • 9. Molecular heterogeneity for bovine maple syrup urine disease.
    Healy PJ, Dennis JA.
    Anim Genet; 1994 Oct; 25(5):329-32. PubMed ID: 7818167
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  • 10. Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences.
    Chuang JL, Cox RP, Chuang DT.
    Am J Hum Genet; 1996 Jun; 58(6):1373-7. PubMed ID: 8651316
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  • 11. 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 Jun; 12(2):136. PubMed ID: 10694918
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  • 14. Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
    Nobukuni Y, Mitsubuchi H, Hayashida Y, Ohta K, Indo Y, Ichiba Y, Endo F, Matsuda I.
    Biochim Biophys Acta; 1993 Nov 25; 1225(1):64-70. PubMed ID: 8161368
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  • 15. 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 25; 87(4):1207-11. PubMed ID: 2010537
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  • 18. 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 25; 49(2):429-34. PubMed ID: 1867199
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