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145 related items for PubMed ID: 12690563

  • 1. Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray.
    van der Westhuizen FH, van den Heuvel LP, Smeets R, Veltman JA, Pfundt R, van Kessel AG, Ursing BM, Smeitink JA.
    Neuropediatrics; 2003 Feb; 34(1):14-22. PubMed ID: 12690563
    [Abstract] [Full Text] [Related]

  • 2. Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
    Ugalde C, Janssen RJ, van den Heuvel LP, Smeitink JA, Nijtmans LG.
    Hum Mol Genet; 2004 Mar 15; 13(6):659-67. PubMed ID: 14749350
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  • 5. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.
    Budde SM, van den Heuvel LP, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels JM, Smeitink JA.
    Biochem Biophys Res Commun; 2000 Aug 18; 275(1):63-8. PubMed ID: 10944442
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  • 6. [Complex I (NADH-ubiquinone oxidoreductase) deficiency].
    Nonaka I.
    Ryoikibetsu Shokogun Shirizu; 2001 Aug 18; (36):129-31. PubMed ID: 11596342
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  • 7. Mitochondrial complex I is deficient in renal oncocytomas.
    Simonnet H, Demont J, Pfeiffer K, Guenaneche L, Bouvier R, Brandt U, Schagger H, Godinot C.
    Carcinogenesis; 2003 Sep 18; 24(9):1461-6. PubMed ID: 12844484
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  • 10. CIA30 complex I assembly factor: a candidate for human complex I deficiency?
    Janssen R, Smeitink J, Smeets R, van Den Heuvel L.
    Hum Genet; 2002 Mar 18; 110(3):264-70. PubMed ID: 11935339
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  • 11. Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.
    Loeffen JL, Smeitink JA, Trijbels JM, Janssen AJ, Triepels RH, Sengers RC, van den Heuvel LP.
    Hum Mutat; 2000 Mar 18; 15(2):123-34. PubMed ID: 10649489
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  • 12. Induction of mitochondrial biogenesis is a maladaptive mechanism in mitochondrial cardiomyopathies.
    Sebastiani M, Giordano C, Nediani C, Travaglini C, Borchi E, Zani M, Feccia M, Mancini M, Petrozza V, Cossarizza A, Gallo P, Taylor RW, d'Amati G.
    J Am Coll Cardiol; 2007 Oct 02; 50(14):1362-9. PubMed ID: 17903636
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  • 13. Identification of distinct and common gene expression changes after oxidative stress and gamma and ultraviolet radiation.
    Heinloth AN, Shackelford RE, Innes CL, Bennett L, Li L, Amin RP, Sieber SO, Flores KG, Bushel PR, Paules RS.
    Mol Carcinog; 2003 Jun 02; 37(2):65-82. PubMed ID: 12766906
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  • 14. Differential mitochondrial DNA and gene expression in inherited retinal dysplasia in miniature Schnauzer dogs.
    Appleyard GD, Forsyth GW, Kiehlbauch LM, Sigfrid KN, Hanik HL, Quon A, Loewen ME, Grahn BH.
    Invest Ophthalmol Vis Sci; 2006 May 02; 47(5):1810-6. PubMed ID: 16638985
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  • 15. Microarray analysis of radiation response genes in primary human fibroblasts.
    Kis E, Szatmári T, Keszei M, Farkas R, Esik O, Lumniczky K, Falus A, Sáfrány G.
    Int J Radiat Oncol Biol Phys; 2006 Dec 01; 66(5):1506-14. PubMed ID: 17069989
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  • 16. Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma.
    Gasparre G, Hervouet E, de Laplanche E, Demont J, Pennisi LF, Colombel M, Mège-Lechevallier F, Scoazec JY, Bonora E, Smeets R, Smeitink J, Lazar V, Lespinasse J, Giraud S, Godinot C, Romeo G, Simonnet H.
    Hum Mol Genet; 2008 Apr 01; 17(7):986-95. PubMed ID: 18156159
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  • 17. Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.
    Moslemi AR, Darin N, Tulinius M, Wiklund LM, Holme E, Oldfors A.
    Neuropediatrics; 2008 Feb 01; 39(1):24-8. PubMed ID: 18504678
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  • 18. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
    Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR.
    Ann Neurol; 2003 Oct 01; 54(4):473-8. PubMed ID: 14520659
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  • 19. The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases.
    van den Heuvel L, Smeitink J.
    Bioessays; 2001 Jun 01; 23(6):518-25. PubMed ID: 11385631
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  • 20. Human NADH:ubiquinone oxidoreductase.
    Smeitink J, Sengers R, Trijbels F, van den Heuvel L.
    J Bioenerg Biomembr; 2001 Jun 01; 33(3):259-66. PubMed ID: 11695836
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