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Journal Abstract Search

274 related items for PubMed ID: 10448086

  • 1. Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.
    Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg ON.
    Biochem Biophys Res Commun; 1999 Aug 19; 262(1):163-6. PubMed ID: 10448086
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  • 3. Amino-terminal residues 1-45 of the Escherichia coli pyruvate dehydrogenase complex E1 subunit interact with the E2 subunit and are required for activity of the complex but not for reductive acetylation of the E2 subunit.
    Park YH, Wei W, Zhou L, Nemeria N, Jordan F.
    Biochemistry; 2004 Nov 09; 43(44):14037-46. PubMed ID: 15518552
    [Abstract] [Full Text] [Related]

  • 4. A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
    Brown RM, Head RA, Boubriak II, Leonard JV, Brown GK.
    Hum Mutat; 2003 Dec 09; 22(6):496-7. PubMed ID: 14635113
    [Abstract] [Full Text] [Related]

  • 5. A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency.
    Wexler ID, Hemalatha SG, Liu TC, Berry SA, Kerr DS, Patel MS.
    Pediatr Res; 1992 Aug 09; 32(2):169-74. PubMed ID: 1508605
    [Abstract] [Full Text] [Related]

  • 6. Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.
    Naito E, Ito M, Takeda E, Yokota I, Yoshijima S, Kuroda Y.
    Pediatr Res; 1994 Sep 09; 36(3):340-6. PubMed ID: 7808831
    [Abstract] [Full Text] [Related]

  • 7. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
    Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A.
    Hum Mutat; 2000 Sep 09; 15(3):209-19. PubMed ID: 10679936
    [Abstract] [Full Text] [Related]

  • 8. ATP synthesis in lipoamide dehydrogenase deficiency.
    Saada A, Aptowitzer I, Link G, Elpeleg ON.
    Biochem Biophys Res Commun; 2000 Mar 16; 269(2):382-6. PubMed ID: 10708561
    [Abstract] [Full Text] [Related]

  • 9. 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 16; 104(4):507-16. PubMed ID: 21914562
    [Abstract] [Full Text] [Related]

  • 10. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews.
    Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, Elpeleg ON.
    Am J Med Genet; 1999 Jan 15; 82(2):177-82. PubMed ID: 9934985
    [Abstract] [Full Text] [Related]

  • 11. Protein-protein interaction revealed by NMR T(2) relaxation experiments: the lipoyl domain and E1 component of the pyruvate dehydrogenase multienzyme complex of Bacillus stearothermophilus.
    Howard MJ, Chauhan HJ, Domingo GJ, Fuller C, Perham RN.
    J Mol Biol; 2000 Jan 28; 295(4):1023-37. PubMed ID: 10656808
    [Abstract] [Full Text] [Related]

  • 12. Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia.
    Rodriguez-Budelli M, Kark P.
    Neurology; 1978 Dec 28; 28(12):1283-6. PubMed ID: 569787
    [Abstract] [Full Text] [Related]

  • 13. Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.
    Dahl HH, Brown GK.
    Hum Mutat; 1994 Dec 28; 3(2):152-5. PubMed ID: 8199595
    [No Abstract] [Full Text] [Related]

  • 14. 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 28; 88(6):1352-60. PubMed ID: 15009635
    [Abstract] [Full Text] [Related]

  • 15. Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.
    Fouque F, Brivet M, Boutron A, Vequaud C, Marsac C, Zabot MT, Benelli C.
    Pediatr Res; 2003 May 28; 53(5):793-9. PubMed ID: 12621116
    [Abstract] [Full Text] [Related]

  • 16. Effect of lpdA gene knockout on the metabolism in Escherichia coli based on enzyme activities, intracellular metabolite concentrations and metabolic flux analysis by 13C-labeling experiments.
    Li M, Ho PY, Yao S, Shimizu K.
    J Biotechnol; 2006 Mar 23; 122(2):254-66. PubMed ID: 16310273
    [Abstract] [Full Text] [Related]

  • 17. Deficiency of pyruvate dehydrogenase complex (PDHC) in Leigh's disease fibroblasts: an abnormality in lipoamide dehydrogenase affecting PDHC activation.
    Hinman LM, Sheu KF, Baker AC, Kim YT, Blass JP.
    Neurology; 1989 Jan 23; 39(1):70-5. PubMed ID: 2909916
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.
    Fujii T, Van Coster RN, Old SE, Medori R, Winter S, Gubits RM, Matthews PM, Brown RM, Brown GK, Dahl HH.
    Ann Neurol; 1994 Jul 15; 36(1):83-9. PubMed ID: 8024267
    [Abstract] [Full Text] [Related]

  • 20. Lipoamide dehydrogenase regulation in rat brain.
    Ngo TT, Barbeau A.
    Can J Neurol Sci; 1978 Feb 15; 5(1):105-9. PubMed ID: 647484
    [Abstract] [Full Text] [Related]

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