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Journal Abstract Search

212 related items for PubMed ID: 21846590

  • 1. 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; 104(3):255-60. PubMed ID: 21846590
    [Abstract] [Full Text] [Related]

  • 2. Magnetic resonance spectroscopic investigation of mitochondrial fuel metabolism and energetics in cultured human fibroblasts: effects of pyruvate dehydrogenase complex deficiency and dichloroacetate.
    Simpson NE, Han Z, Berendzen KM, Sweeney CA, Oca-Cossio JA, Constantinidis I, Stacpoole PW.
    Mol Genet Metab; 2006 Nov; 89(1-2):97-105. PubMed ID: 16765624
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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]

  • 5. 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]

  • 6. Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.
    Shin HK, Grahame G, McCandless SE, Kerr DS, Bedoyan JK.
    Mol Genet Metab; 2017 Nov 04; 122(3):61-66. PubMed ID: 28918066
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. TGF-β1 is a regulator of the pyruvate dehydrogenase complex in fibroblasts.
    Smith ER, Hewitson TD.
    Sci Rep; 2020 Oct 21; 10(1):17914. PubMed ID: 33087819
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
    Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA.
    Mol Genet Metab; 2017 Apr 25; 120(4):342-349. PubMed ID: 28202214
    [Abstract] [Full Text] [Related]

  • 12. 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 25; 45(3):557-570. PubMed ID: 35038180
    [Abstract] [Full Text] [Related]

  • 13. 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 May 25; 101(2-3):183-91. PubMed ID: 20685142
    [Abstract] [Full Text] [Related]

  • 14. 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 25; 107(3):394-402. PubMed ID: 23021068
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 25; 93(4):371-80. PubMed ID: 18164639
    [Abstract] [Full Text] [Related]

  • 17. The pyruvate dehydrogenase complex as a target for gene therapy.
    Stacpoole PW, Owen R, Flotte TR.
    Curr Gene Ther; 2003 Jun 25; 3(3):239-45. PubMed ID: 12762482
    [Abstract] [Full Text] [Related]

  • 18. Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts.
    Sheu KF, Hu CW, Utter MF.
    J Clin Invest; 1981 May 25; 67(5):1463-71. PubMed ID: 6262377
    [Abstract] [Full Text] [Related]

  • 19. 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 25; 93(4):381-7. PubMed ID: 18206410
    [Abstract] [Full Text] [Related]

  • 20. Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
    Naito E, Ito M, Yokota I, Saijo T, Ogawa Y, Kuroda Y.
    J Neurol Sci; 2002 Sep 15; 201(1-2):33-7. PubMed ID: 12163191
    [Abstract] [Full Text] [Related]

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