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202 related items for PubMed ID: 17923481

  • 1. Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.
    Han Z, Zhong L, Srivastava A, Stacpoole PW.
    J Biol Chem; 2008 Jan 04; 283(1):237-243. PubMed ID: 17923481
    [Abstract] [Full Text] [Related]

  • 2. 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 04; 104(4):507-16. PubMed ID: 21914562
    [Abstract] [Full Text] [Related]

  • 3. Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
    Okajima K, Korotchkina LG, Prasad C, Rupar T, Phillips JA, Ficicioglu C, Hertecant J, Patel MS, Kerr DS.
    Mol Genet Metab; 2008 Apr 04; 93(4):371-80. PubMed ID: 18164639
    [Abstract] [Full Text] [Related]

  • 4. Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.
    Ducich NH, Mears JA, Bedoyan JK.
    J Inherit Metab Dis; 2022 May 04; 45(3):557-570. PubMed ID: 35038180
    [Abstract] [Full Text] [Related]

  • 5. Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.
    Bhandary S, Aguan K.
    Epilepsy Res; 2015 Oct 04; 116():40-52. PubMed ID: 26354166
    [Abstract] [Full Text] [Related]

  • 6. Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts.
    Glushakova LG, Judge S, Cruz A, Pourang D, Mathews CE, Stacpoole PW.
    Mol Genet Metab; 2011 Nov 04; 104(3):255-60. PubMed ID: 21846590
    [Abstract] [Full Text] [Related]

  • 7. Tyr-301 phosphorylation inhibits pyruvate dehydrogenase by blocking substrate binding and promotes the Warburg effect.
    Fan J, Kang HB, Shan C, Elf S, Lin R, Xie J, Gu TL, Aguiar M, Lonning S, Chung TW, Arellano M, Khoury HJ, Shin DM, Khuri FR, Boggon TJ, Kang S, Chen J.
    J Biol Chem; 2014 Sep 19; 289(38):26533-26541. PubMed ID: 25104357
    [Abstract] [Full Text] [Related]

  • 8. Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
    Cameron JM, Levandovskiy V, Mackay N, Tein I, Robinson BH.
    Am J Med Genet A; 2004 Nov 15; 131(1):59-66. PubMed ID: 15384102
    [Abstract] [Full Text] [Related]

  • 9. Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1).
    Steller J, Gargus JJ, Gibbs LH, Hasso AN, Kimonis VE.
    Neuropediatrics; 2014 Feb 15; 45(1):56-60. PubMed ID: 23572181
    [Abstract] [Full Text] [Related]

  • 10. Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.
    Lib MY, Brown RM, Brown GK, Marusich MF, Capaldi RA.
    J Histochem Cytochem; 2002 Jul 15; 50(7):877-84. PubMed ID: 12070266
    [Abstract] [Full Text] [Related]

  • 11. A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate.
    Han Z, Berendzen K, Zhong L, Surolia I, Chouthai N, Zhao W, Maina N, Srivastava A, Stacpoole PW.
    Mol Genet Metab; 2008 Apr 15; 93(4):381-7. PubMed ID: 18206410
    [Abstract] [Full Text] [Related]

  • 12. An animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1α.
    Ojano-Dirain C, Glushakova LG, Zhong L, Zolotukhin S, Muzyczka N, Srivastava A, Stacpoole PW.
    Mol Genet Metab; 2010 Apr 15; 101(2-3):183-91. PubMed ID: 20685142
    [Abstract] [Full Text] [Related]

  • 13. Prolyl-hydroxylase PHD3 interacts with pyruvate dehydrogenase (PDH)-E1β and regulates the cellular PDH activity.
    Kikuchi D, Minamishima YA, Nakayama K.
    Biochem Biophys Res Commun; 2014 Aug 22; 451(2):288-94. PubMed ID: 25088999
    [Abstract] [Full Text] [Related]

  • 14. Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
    Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK.
    Hum Genet; 2004 Jul 22; 115(2):123-7. PubMed ID: 15138885
    [Abstract] [Full Text] [Related]

  • 15. [Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene].
    Blanco-Barca O, Gomez-Lado C, Rodrigo-Saez E, Curros-Novos C, Briones-Godino P, Eiris-Punal J, Castro-Gago M.
    Rev Neurol; 2004 Jul 22; 43(6):341-5. PubMed ID: 16981164
    [Abstract] [Full Text] [Related]

  • 16. Purification of the pyruvate dehydrogenase multienzyme complex of Zymomonas mobilis and identification and sequence analysis of the corresponding genes.
    Neveling U, Klasen R, Bringer-Meyer S, Sahm H.
    J Bacteriol; 1998 Mar 22; 180(6):1540-8. PubMed ID: 9515924
    [Abstract] [Full Text] [Related]

  • 17. Sequential deletion of C-terminal amino acids of the E(1)alpha component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E(1)alpha(2)beta(2) tetramers: implications for patients with PDH deficiency.
    Seyda A, McEachern G, Haas R, Robinson BH.
    Hum Mol Genet; 2000 Apr 12; 9(7):1041-8. PubMed ID: 10767328
    [Abstract] [Full Text] [Related]

  • 18. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
    DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS.
    Mol Genet Metab; 2012 Nov 12; 107(3):394-402. PubMed ID: 23021068
    [Abstract] [Full Text] [Related]

  • 19. Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex.
    Drakulic S, Rai J, Petersen SV, Golas MM, Sander B.
    Cell Mol Life Sci; 2018 Aug 12; 75(16):3009-3026. PubMed ID: 29445841
    [Abstract] [Full Text] [Related]

  • 20. Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency.
    Karissa P, Simpson T, Dawson SP, Low TY, Tay SH, Nordin FDA, Zain SM, Lee PY, Pung YF.
    Br J Biomed Sci; 2022 Aug 12; 79():10382. PubMed ID: 35996497
    [Abstract] [Full Text] [Related]

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