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

168 related items for PubMed ID: 14506246

  • 1. Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency.
    Pedersen CB, Bross P, Winter VS, Corydon TJ, Bolund L, Bartlett K, Vockley J, Gregersen N.
    J Biol Chem; 2003 Nov 28; 278(48):47449-58. PubMed ID: 14506246
    [Abstract] [Full Text] [Related]

  • 2. Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer.
    Holm DA, Dagnaes-Hansen F, Simonsen H, Gregersen N, Bolund L, Jensen TG, Corydon TJ.
    Mol Genet Metab; 2003 Apr 28; 78(4):250-8. PubMed ID: 12706376
    [Abstract] [Full Text] [Related]

  • 3. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
    Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N.
    Hum Genet; 2008 Aug 28; 124(1):43-56. PubMed ID: 18523805
    [Abstract] [Full Text] [Related]

  • 4. Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress.
    Schmidt SP, Corydon TJ, Pedersen CB, Bross P, Gregersen N.
    Mol Genet Metab; 2010 Jun 28; 100(2):155-62. PubMed ID: 20371198
    [Abstract] [Full Text] [Related]

  • 5. Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme.
    Nguyen TV, Riggs C, Babovic-Vuksanovic D, Kim YS, Carpenter JF, Burghardt TP, Gregersen N, Vockley J.
    Biochemistry; 2002 Sep 17; 41(37):11126-33. PubMed ID: 12220177
    [Abstract] [Full Text] [Related]

  • 6. Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase.
    Schmidt SP, Corydon TJ, Pedersen CB, Vang S, Palmfeldt J, Stenbroen V, Wanders RJ, Ruiter JP, Gregersen N.
    J Inherit Metab Dis; 2011 Apr 17; 34(2):465-75. PubMed ID: 21170680
    [Abstract] [Full Text] [Related]

  • 7. Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria.
    Corydon TJ, Bross P, Jensen TG, Corydon MJ, Lund TB, Jensen UB, Kim JJ, Gregersen N, Bolund L.
    J Biol Chem; 1998 May 22; 273(21):13065-71. PubMed ID: 9582344
    [Abstract] [Full Text] [Related]

  • 8. Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
    Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M.
    Hum Genet; 2010 Jun 22; 127(6):619-28. PubMed ID: 20376488
    [Abstract] [Full Text] [Related]

  • 9. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
    Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kølvraa S.
    Hum Mol Genet; 1998 Apr 22; 7(4):619-27. PubMed ID: 9499414
    [Abstract] [Full Text] [Related]

  • 10. Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.
    Schuler AM, Gower BA, Matern D, Rinaldo P, Vockley J, Wood PA.
    Mol Genet Metab; 2005 May 22; 85(1):7-11. PubMed ID: 15862275
    [Abstract] [Full Text] [Related]

  • 11. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.
    Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N.
    Pediatr Res; 2001 Jan 22; 49(1):18-23. PubMed ID: 11134486
    [Abstract] [Full Text] [Related]

  • 12. Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects?
    Olsen RK, Cornelius N, Gregersen N.
    Mol Genet Metab; 2013 Jan 22; 110 Suppl():S31-9. PubMed ID: 24206932
    [Abstract] [Full Text] [Related]

  • 13. Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice.
    Kragh PM, Pedersen CB, Schmidt SP, Winter VS, Vajta G, Gregersen N, Bolund L, Corydon TJ.
    Mol Genet Metab; 2007 Jun 22; 91(2):128-37. PubMed ID: 17462936
    [Abstract] [Full Text] [Related]

  • 14. Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
    Edhager AV, Stenbroen V, Nielsen NS, Bross P, Olsen RKJ, Gregersen N, Palmfeldt J.
    Mol Genet Metab; 2014 Mar 22; 111(3):360-368. PubMed ID: 24485985
    [Abstract] [Full Text] [Related]

  • 15. A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.
    Young SP, Matern D, Gregersen N, Stevens RD, Bali D, Liu HM, Koeberl DD, Millington DS.
    Clin Chim Acta; 2003 Nov 22; 337(1-2):103-13. PubMed ID: 14568186
    [Abstract] [Full Text] [Related]

  • 16. Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector.
    Conlon TJ, Walter G, Owen R, Cossette T, Erger K, Gutierrez G, Goetzman E, Matern D, Vockley J, Flotte TR.
    Hum Gene Ther; 2006 Jan 22; 17(1):71-80. PubMed ID: 16409126
    [Abstract] [Full Text] [Related]

  • 17. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.
    van Maldegem BT, Waterham HR, Duran M, van der Vlies M, van Woerden CS, Bobu LL, Wanders RJ, Wijburg FA.
    J Inherit Metab Dis; 2005 Jan 22; 28(4):557-62. PubMed ID: 15902559
    [Abstract] [Full Text] [Related]

  • 18. A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.
    Battisti C, Forte F, Molinelli M, Funghini S, Pasquini E, Tassini M, Dotti MT, Federico A.
    Neurol Sci; 2007 Dec 22; 28(6):328-30. PubMed ID: 18175080
    [Abstract] [Full Text] [Related]

  • 19. Complex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice.
    Wang W, Mohsen AW, Uechi G, Schreiber E, Balasubramani M, Day B, Michael Barmada M, Vockley J.
    Mol Genet Metab; 2014 May 22; 112(1):30-9. PubMed ID: 24685553
    [Abstract] [Full Text] [Related]

  • 20. Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidation.
    Schuler AM, Gower BA, Matern D, Rinaldo P, Wood PA.
    Mol Genet Metab; 2004 Dec 22; 83(4):322-9. PubMed ID: 15589119
    [Abstract] [Full Text] [Related]

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