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A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
Wanschers BF, Szklarczyk R, van den Brand MA, Jonckheere A, Suijskens J, Smeets R, Rodenburg RJ, Stephan K, Helland IB, Elkamil A, Rootwelt T, Ott M, van den Heuvel L, Nijtmans LG, Huynen MA. Wanschers BF, et al. Among authors: van den brand ma, van den heuvel l. Hum Mol Genet. 2014 Dec 1;23(23):6356-65. doi: 10.1093/hmg/ddu357. Epub 2014 Jul 9. Hum Mol Genet. 2014. PMID: 25008109
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
Smits P, Mattijssen S, Morava E, van den Brand M, van den Brandt F, Wijburg F, Pruijn G, Smeitink J, Nijtmans L, Rodenburg R, van den Heuvel L. Smits P, et al. Among authors: van den brand m, van den brandt f, van den heuvel l. Eur J Hum Genet. 2010 Mar;18(3):324-9. doi: 10.1038/ejhg.2009.169. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809478 Free PMC article.
Complex I assembly: a puzzling problem.
Vogel R, Nijtmans L, Ugalde C, van den Heuvel L, Smeitink J. Vogel R, et al. Among authors: van den heuvel l. Curr Opin Neurol. 2004 Apr;17(2):179-86. doi: 10.1097/00019052-200404000-00016. Curr Opin Neurol. 2004. PMID: 15021246
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.
Nouws J, Nijtmans L, Houten SM, van den Brand M, Huynen M, Venselaar H, Hoefs S, Gloerich J, Kronick J, Hutchin T, Willems P, Rodenburg R, Wanders R, van den Heuvel L, Smeitink J, Vogel RO. Nouws J, et al. Among authors: van den brand m, van den heuvel l. Cell Metab. 2010 Sep 8;12(3):283-94. doi: 10.1016/j.cmet.2010.08.002. Cell Metab. 2010. PMID: 20816094 Free article.
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. Timal S, et al. Among authors: van spronsen fj, van den heuvel l. Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5. Hum Mol Genet. 2012. PMID: 22492991
634 results