These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

166 related items for PubMed ID: 20685142

  • 1. 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; 101(2-3):183-91. PubMed ID: 20685142
    [Abstract] [Full Text] [Related]

  • 2. Down-regulation of expression of rat pyruvate dehydrogenase E1alpha gene by self-complementary adeno-associated virus-mediated small interfering RNA delivery.
    Han Z, Gorbatyuk M, Thomas J, Lewin AS, Srivastava A, Stacpoole PW.
    Mitochondrion; 2007 Jul; 7(4):253-9. PubMed ID: 17392036
    [Abstract] [Full Text] [Related]

  • 3. 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; 93(4):381-7. PubMed ID: 18206410
    [Abstract] [Full Text] [Related]

  • 4. 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; 75(16):3009-3026. PubMed ID: 29445841
    [Abstract] [Full Text] [Related]

  • 5. Gene therapy for pyruvate dehydrogenase E1alpha deficiency using recombinant adeno-associated virus 2 (rAAV2) vectors.
    Owen R, Mandel RJ, Ammini CV, Conlon TJ, Kerr DS, Stacpoole PW, Flotte TR.
    Mol Ther; 2002 Sep; 6(3):394-9. PubMed ID: 12231176
    [Abstract] [Full Text] [Related]

  • 6. 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; 45(3):557-570. PubMed ID: 35038180
    [Abstract] [Full Text] [Related]

  • 7. 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; 93(4):371-80. PubMed ID: 18164639
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. The pyruvate dehydrogenase complex as a target for gene therapy.
    Stacpoole PW, Owen R, Flotte TR.
    Curr Gene Ther; 2003 Jun 04; 3(3):239-45. PubMed ID: 12762482
    [Abstract] [Full Text] [Related]

  • 10. AAV3-mediated transfer and expression of the pyruvate dehydrogenase E1 alpha subunit gene causes metabolic remodeling and apoptosis of human liver cancer cells.
    Glushakova LG, Lisankie MJ, Eruslanov EB, Ojano-Dirain C, Zolotukhin I, Liu C, Srivastava A, Stacpoole PW.
    Mol Genet Metab; 2009 Nov 04; 98(3):289-99. PubMed ID: 19586787
    [Abstract] [Full Text] [Related]

  • 11. Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency.
    Pavlu-Pereira H, Lousa D, Tomé CS, Florindo C, Silva MJ, de Almeida IT, Leandro P, Rivera I, Vicente JB.
    Biochimie; 2021 Apr 04; 183():78-88. PubMed ID: 33588022
    [Abstract] [Full Text] [Related]

  • 12. 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 04; 45(1):56-60. PubMed ID: 23572181
    [Abstract] [Full Text] [Related]

  • 13. Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function.
    Gokcan H, Bedoyan JK, Isayev O.
    J Chem Inf Model; 2022 Jul 25; 62(14):3463-3475. PubMed ID: 35797142
    [Abstract] [Full Text] [Related]

  • 14. The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.
    Gabut M, Miné M, Marsac C, Brivet M, Tazi J, Soret J.
    Mol Cell Biol; 2005 Apr 25; 25(8):3286-94. PubMed ID: 15798212
    [Abstract] [Full Text] [Related]

  • 15. 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 25; 104(4):507-16. PubMed ID: 21914562
    [Abstract] [Full Text] [Related]

  • 16. Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
    Pavlu-Pereira H, Silva MJ, Florindo C, Sequeira S, Ferreira AC, Duarte S, Rodrigues AL, Janeiro P, Oliveira A, Gomes D, Bandeira A, Martins E, Gomes R, Soares S, Tavares de Almeida I, Vicente JB, Rivera I.
    Orphanet J Rare Dis; 2020 Oct 22; 15(1):298. PubMed ID: 33092611
    [Abstract] [Full Text] [Related]

  • 17. Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
    Coughlin CR, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J.
    Mol Genet Metab; 2010 Jul 22; 100(3):296-9. PubMed ID: 20462777
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. In vivo gene knockdown in rat dorsal root ganglia mediated by self-complementary adeno-associated virus serotype 5 following intrathecal delivery.
    Xu Q, Chou B, Fitzsimmons B, Miyanohara A, Shubayev V, Santucci C, Hefferan M, Marsala M, Hua XY.
    PLoS One; 2012 Aug 22; 7(3):e32581. PubMed ID: 22403675
    [Abstract] [Full Text] [Related]

  • 20. Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
    Pinheiro A, Silva MJ, Pavlu-Pereira H, Florindo C, Barroso M, Marques B, Correia H, Oliveira A, Gaspar A, Tavares de Almeida I, Rivera I.
    Gene; 2016 Oct 15; 591(2):417-24. PubMed ID: 27343776
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.