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Journal Abstract Search

171 related items for PubMed ID: 16770810

  • 1. Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.
    Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH.
    Am J Med Genet A; 2006 Jul 15; 140(14):1542-52. PubMed ID: 16770810
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  • 6. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
    Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M.
    Mol Genet Metab; 2011 Dec 15; 104(4):507-16. PubMed ID: 21914562
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  • 7. Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.
    Haviv R, Zeharia A, Belaiche C, Haimi Cohen Y, Saada A.
    Eur J Pediatr; 2014 Feb 15; 173(2):243-5. PubMed ID: 23995961
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  • 8. Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.
    Cerna L, Wenchich L, Hansiková H, Kmoch S, Peskova K, Chrastina P, Brynda J, Zeman J.
    Med Sci Monit; 2001 Feb 15; 7(6):1319-25. PubMed ID: 11687750
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  • 9. Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing.
    Hong YS, Kerr DS, Liu TC, Lusk M, Powell BR, Patel MS.
    Biochim Biophys Acta; 1997 Dec 31; 1362(2-3):160-8. PubMed ID: 9540846
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  • 10. Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanism.
    Ambrus A, Adam-Vizi V.
    Neurochem Int; 2018 Jul 31; 117():5-14. PubMed ID: 28579060
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  • 11. Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
    Brassier A, Ottolenghi C, Boutron A, Bertrand AM, Valmary-Degano S, Cervoni JP, Chrétien D, Arnoux JB, Hubert L, Rabier D, Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P.
    Mol Genet Metab; 2013 May 31; 109(1):28-32. PubMed ID: 23478190
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  • 12. Expression and purification of the dihydrolipoamide acetyltransferase and dihydrolipoamide dehydrogenase subunits of the Escherichia coli pyruvate dehydrogenase multienzyme complex: a mass spectrometric assay for reductive acetylation of dihydrolipoamide acetyltransferase.
    Wei W, Li H, Nemeria N, Jordan F.
    Protein Expr Purif; 2003 Mar 31; 28(1):140-50. PubMed ID: 12651118
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  • 13. Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
    Lissens W, Vreken P, Barth PG, Wijburg FA, Ruitenbeek W, Wanders RJ, Seneca S, Liebaers I, De Meirleir L.
    Eur J Pediatr; 1999 Oct 31; 158(10):853-7. PubMed ID: 10486093
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  • 14. Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia.
    Awata H, Endo F, Tanoue A, Kitano A, Matsuda I.
    J Inherit Metab Dis; 1994 Oct 31; 17(2):189-95. PubMed ID: 7967473
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  • 15. Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate.
    Craigen WJ.
    Pediatr Neurol; 1996 Jan 31; 14(1):69-71. PubMed ID: 8652022
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  • 16. Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells.
    Vaubel RA, Rustin P, Isaya G.
    J Biol Chem; 2011 Nov 18; 286(46):40232-45. PubMed ID: 21930696
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  • 17. Biochemical and molecular characterization of the Alcaligenes eutrophus pyruvate dehydrogenase complex and identification of a new type of dihydrolipoamide dehydrogenase.
    Hein S, Steinbüchel A.
    J Bacteriol; 1994 Jul 18; 176(14):4394-408. PubMed ID: 8021225
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  • 18. Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.
    Hong YS, Kerr DS, Craigen WJ, Tan J, Pan Y, Lusk M, Patel MS.
    Hum Mol Genet; 1996 Dec 18; 5(12):1925-30. PubMed ID: 8968745
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  • 19. Amino acid substitutions at glutamate-354 in dihydrolipoamide dehydrogenase of Escherichia coli lower the sensitivity of pyruvate dehydrogenase to NADH.
    Sun Z, Do PM, Rhee MS, Govindasamy L, Wang Q, Ingram LO, Shanmugam KT.
    Microbiology (Reading); 2012 May 18; 158(Pt 5):1350-1358. PubMed ID: 22343352
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  • 20. Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP, malonate and 3-nitropropionic acid neurotoxicity.
    Klivenyi P, Starkov AA, Calingasan NY, Gardian G, Browne SE, Yang L, Bubber P, Gibson GE, Patel MS, Beal MF.
    J Neurochem; 2004 Mar 18; 88(6):1352-60. PubMed ID: 15009635
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