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Journal Abstract Search

129 related items for PubMed ID: 11935339

  • 1. 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; 110(3):264-70. PubMed ID: 11935339
    [Abstract] [Full Text] [Related]

  • 2. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits.
    Ton C, Hwang DM, Dempsey AA, Liew CC.
    Biochem Biophys Res Commun; 1997 Dec 18; 241(2):589-94. PubMed ID: 9425316
    [Abstract] [Full Text] [Related]

  • 3. Impact of mutations affecting ND mitochondria-encoded subunits on the activity and assembly of complex I in Chlamydomonas. Implication for the structural organization of the enzyme.
    Cardol P, Matagne RF, Remacle C.
    J Mol Biol; 2002 Jun 21; 319(5):1211-21. PubMed ID: 12079358
    [Abstract] [Full Text] [Related]

  • 4. Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I).
    Küffner R, Rohr A, Schmiede A, Krüll C, Schulte U.
    J Mol Biol; 1998 Oct 23; 283(2):409-17. PubMed ID: 9769214
    [Abstract] [Full Text] [Related]

  • 5. Respiratory chain complex I deficiency.
    Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA.
    Am J Med Genet; 2001 Oct 23; 106(1):37-45. PubMed ID: 11579423
    [Abstract] [Full Text] [Related]

  • 6. Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3).
    de Coo RF, Buddiger P, Smeets HJ, van Oost BA.
    Genomics; 1997 Oct 15; 45(2):434-7. PubMed ID: 9344673
    [Abstract] [Full Text] [Related]

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  • 8. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
    Dunning CJ, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, Fletcher JM, Kirby DM, Thorburn DR, Ryan MT.
    EMBO J; 2007 Jul 11; 26(13):3227-37. PubMed ID: 17557076
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Disruption of iron-sulphur cluster N2 from NADH: ubiquinone oxidoreductase by site-directed mutagenesis.
    Duarte M, Pópulo H, Videira A, Friedrich T, Schulte U.
    Biochem J; 2002 Jun 15; 364(Pt 3):833-9. PubMed ID: 12049648
    [Abstract] [Full Text] [Related]

  • 11. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.
    Bénit P, Beugnot R, Chretien D, Giurgea I, De Lonlay-Debeney P, Issartel JP, Corral-Debrinski M, Kerscher S, Rustin P, Rötig A, Munnich A.
    Hum Mutat; 2003 Jun 15; 21(6):582-6. PubMed ID: 12754703
    [Abstract] [Full Text] [Related]

  • 12. Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency.
    Meulemans A, Lissens W, Van Coster R, De Meirleir L, Smet J, Nassogne MC, Liebaers I, Seneca S.
    Eur J Paediatr Neurol; 2004 Jun 15; 8(6):299-306. PubMed ID: 15542384
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 34(1):14-22. PubMed ID: 12690563
    [Abstract] [Full Text] [Related]

  • 15. Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia.
    Zhou J, Young TL.
    Gene; 2005 Jun 06; 352():10-9. PubMed ID: 15862761
    [Abstract] [Full Text] [Related]

  • 16. 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 Jun 06; 15(2):123-34. PubMed ID: 10649489
    [Abstract] [Full Text] [Related]

  • 17. [Complex I (NADH-ubiquinone oxidoreductase) deficiency].
    Nonaka I.
    Ryoikibetsu Shokogun Shirizu; 2001 Jun 06; (36):129-31. PubMed ID: 11596342
    [No Abstract] [Full Text] [Related]

  • 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 06; 54(4):473-8. PubMed ID: 14520659
    [Abstract] [Full Text] [Related]

  • 19. Adaptive selection of mitochondrial complex I subunits during primate radiation.
    Mishmar D, Ruiz-Pesini E, Mondragon-Palomino M, Procaccio V, Gaut B, Wallace DC.
    Gene; 2006 Aug 15; 378():11-8. PubMed ID: 16828987
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