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Kindergeneeskunde
PO Box 9101
6500 HB Nijmegen
T: +31 24 3610938
F: +31 24 3616428

Leo Nijtmans obtained his PhD. Degree in Biochemistry at the University of Amsterdam. Hereafter he received a Marie Curie Fellowship to work at the University of Dundee (United Kingdom). He is Assistant Professor at the Nijmegen Centre for Mitochondrial Disorders (NCMD) since August 2001. In this year he received the prestigious "NWO vernieuwings impuls grant" which started in January 2002.
Dr. Leo Nijtmans

Research interests include the biogenesis of mitochondria and in particular the complexes involved in the process of oxidative phosphorylation, with a specific focus on complex I. Research questions investigated include: what is the sequence of assembly of subunits of complex I? What are the crucial steps in the assembly? What is the function of the individual accessory subunits of complex I? How is assembly affected in complex I deficient patients. These research questions provide insight in the molecular mechanisms leading to mitochondrial disorders.
 
Recent key publications

Vogel RO, Janssen RJ, Ugalde C, Groevenstein M, Huijbens RJ, Visch HJ, Van den Heuvel LP, Willems PH, Zeviani M, Smeitink JA, Nijtmans LG. Human mitochondrial complex I assembly is mediated by NDUFAF1. FEBS J. 2005 Oct;272(20):5317-26.

Blakely EL, Mitchell AL, Fisher N, Neunier B, Nijtmans LG, Schaefer AM, Jackson MJ, Turnbull DM, Taylor RW. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. FEBS J. 2005 Jul;272(14):3583-92.

Ugalde, C.,Vogel, R.,Huijbens, R., van den Heuvel B., Smeitink J., and Nijtmans, L. (2004) Human mitochondrial complex I assembles through the combination of evolutionary conserved modules; a framework to interpret complex I deficiencies. Hum. Mol. Genet., 13 (20):2461-72

Ugalde,C., Janssen,R.J.R.J., Smeitink,J.A.M., and Nijtmans,L.G.J. (2004) Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.Hum. Mol. Genet., 13, 659-667.