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| Full Text | Issue Date | Title | Author(s) |  | 2011 | Solute diffusion is hindered in the mitochondrial matrix | Dieteren, C.E.J.; Gielen, S.C.A.M.; Nijtmans, L.G.J.; Smeitink, J.A.M.; Swarts, H.G.P.; Brock, R.; Willems, P.H.G.M.; Koopman, W.J.H. |
| | 2011 | New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS) | Calvaruso, M.A.; Willemsen, M.A.; Rodenburg, R.J.T.; Brand, M. van den; Smeitink, J.A.M.; Nijtmans, L.G.J. |
 | 2011 | TEFM (c17orf42) is necessary for transcription of human mtDNA | Minczuk, M.; He, J.; Duch, A.M.; Ettema, T.J.G.; Chlebowski, A.; Dzionek, K.; Nijtmans, L.G.J.; Huynen, M.A.; Holt, I.J. |
| | 2011 | Mitochondrial DNA replication and OXPHOS gene transcription show varied responsiveness to Rieske protein knockdown in 143B cells | Levanets, O.; Reinecke, F.; Louw, R.; Pretorius, P.J.; Plessis, L.H. du; Nijtmans, L.G.J.; Smeitink, J.A.M.; Westhuizen, F.H. van der |
| | 2011 | Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression | Achouitar, S.; Mohamed, M.; Gardeitchik, T.; Wortmann, S.B.; Sykut-Cegielska, J.; Ensenauer, R.; Baulny, H.O. de; Ounap, K.; Martinelli, D.; de Vries, M.; McFarland, R.; Kouwenberg, D.; Theodore, M.; Wijburg, F.; Grunewald, S.; Jaeken, J.; Wevers, R.A.; Nijtmans, L.G.J.; Elson, J.; Morava, E. |
| | 2011 | Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome | Ostergaard, E.; Rodenburg, R.J.T.; Brand, M.A.M. van den; Thomsen, L.L.; Duno, M.; Batbayli, M.; Wibrand, F.; Nijtmans, L.G.J. |
| | 2011 | NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease | Hoefs, S.J.G.; Spronsen, F.J. van; Lenssen, E.W.H.; Nijtmans, L.G.J.; Rodenburg, R.J.T.; Smeitink, J.A.M.; van den Heuvel, L.P. |
| | 2011 | NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I | Szklarczyk, R.J.; Wanschers, B.F.J.; Nabuurs, S.B.; Nouws, J.; Nijtmans, L.G.J.; Huynen, M.A. |
| | 2011 | Defective mitochondrial translation differently affects the live cell dynamics of complex I subunits | Dieteren, C.E.J.; Willems, P.H.G.M.; Swarts, H.G.P.; Fransen, J.; Smeitink, J.A.M.; Koopman, W.J.H.; Nijtmans, L.G.J. |
| | 2011 | NOA1 is an essential GTPase required for mitochondrial protein synthesis. | Kolanczyk, M.; Pech, M.; Zemojtel, T.; Yamamoto, H.; Mikula, I.; Calvaruso, M.A.; Brand, M.A.M. van den; Richter, R.; Fischer, B.; Ritz, A.; Kossler, N.; Thurisch, B.; Spoerle, R.; Smeitink, J.A.; Kornak, U.; Chan, D.; Vingron, M.; Martasek, P.; Lightowlers, R.N.; Nijtmans, L.G.; Schuelke, M.; Nierhaus, K.H.; Mundlos, S. |
| | 2011 | A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy | Huigsloot, M.; Nijtmans, L.G.J.; Szklarczyk, R.J.; Baars, M.J.; Brand, M.A.M. van den; Hendriksfranssen, M.G.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Huynen, M.A.; Rodenburg, R.J.T. |
| | 2010 | Blue native electrophoresis to study mitochondrial complex I in C. elegans. | Ecker, D. van den; Brand, M.A.M. van den; Bossinger, O.; Mayatepek, E.; Nijtmans, L.G.J.; Distelmaier, F. |
| | 2010 | Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. | Hoefs, S.J.G.; Skjeldal, O.H.; Rodenburg, R.J.T.; Nedregaard, B.; Kaauwen, E. van; Spiekerkotter, U.; Kleist-Retzow, J.C. von; Smeitink, J.A.M.; Nijtmans, L.G.J.; Heuvel, L.P.W.J. van den |
| | 2010 | Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. | Nouws, J.; Nijtmans, L.G.J.; Houten, S.M.; Brand, M. van den; Huijnen, M.A.; Venselaar, H.; Hoefs, S.J.G.; Gloerich, J.; Kronick, J.; Hutchin, T.; Willems, P.H.G.M.; Rodenburg, R.J.T.; Wanders, R.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Vogel, R.O. |
| | 2010 | Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. | Smits, P.; Mattijssen, S.; Morava, E.; Brand, M. van den; Brandt, F. van den; Wijburg, F.; Pruijn, G.J.M.; Smeitink, J.A.M.; Nijtmans, L.G.J.; Rodenburg, R.J.T.; Heuvel, L.P.W.J. van den |
| | 2010 | Mammalian mitochondrial complex I: biogenesis, regulation, and reactive oxygen species generation. | Koopman, W.J.H.; Nijtmans, L.G.J.; Dieteren, C.E.J.; Roestenberg, P.M.H.; Valsecchi, F.; Smeitink, J.A.M.; Willems, P.H.G.M. |
 | 2009 | Tracing human mitochondrial complex I assembly by use of GFP-tagged subunits | Dieteren, C.E.J.; Koopman, W.J.H.; Nijtmans, L.G.J. |
| | 2009 | Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator mice. | Edgar, D.; Shabalina, I.; Camara, Y.; Wredenberg, A.; Calvaruso, M.A.; Nijtmans, L.G.J.; Nedergaard, J.; Cannon, B.; Larsson, N.G.; Trifunovic, A. |
| | 2009 | Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder. | Janssen, R.J.R.J.; Distelmaier, F.; Smeets, R.J.P.; Wijnhoven, T.J.M.; Ostergaard, E.; Jaspers, N.G.; Raams, A.; Kemp, S.; Rodenburg, R.J.T.; Willems, P.H.G.M.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Nijtmans, L.G.J. |
| | 2009 | Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. | Hoefs, S.J.G.; Dieteren, C.E.J.; Rodenburg, R.J.T.; Naess, K.; Bruhn, H.; Wibom, R.; Wagena, E.; Willems, P.H.G.M.; Smeitink, J.A.M.; Nijtmans, L.G.J.; Heuvel, L.P.W.J. van den |
| | 2009 | Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. | Saada, A.; Vogel, R.O.; Hoefs, S.J.G.; Brand, M.A.M. van den; Wessels, H.J.; Willems, P.H.G.M.; Venselaar, H.; Shaag, A.; Barghuti, F.; Reish, O.; Shohat, M.; Huijnen, M.A.; Smeitink, J.A.M.; Heuvel, L.P.W.J. van den; Nijtmans, L.G.J. |
| | 2009 | LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes. | Wessels, H.J.; Vogel, R.O.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Rodenburg, R.J.T.; Nijtmans, L.G.J.; Farhoud, M.H. |
| | 2008 | Electrophoresis techniques to investigate defects in oxidative phosphorylation. | Calvaruso, M.A.; Smeitink, J.A.M.; Nijtmans, L.G.J. |
| | 2008 | Mitochondrial complex V expression and activity in cystinotic fibroblasts. | Wilmer, M.J.G.; Heuvel, L.P.W.J. van den; Rodenburg, R.J.T.; Vogel, R.O.; Nijtmans, L.G.J.; Monnens, L.A.H.; Levtchenko, E.N. |
| | 2008 | Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. | Dieteren, C.E.J.; Willems, P.H.G.M.; Vogel, R.O.; Swarts, H.G.P.; Fransen, J.; Roepman, R.; Crienen, G.; Smeitink, J.A.M.; Nijtmans, L.G.J.; Koopman, W.J.H. |
| | 2008 | NDUFA2 complex I mutation leads to Leigh disease. | Hoefs, S.J.; Dieteren, C.E.; Distelmaier, F.; Janssen, R.J.; Epplen, A.; Swarts, H.G.P.; Forkink, M.; Rodenburg, R.J.; Nijtmans, L.G.J.; Willems, P.H.G.M.; Smeitink, J.A.M.; Heuvel, L.P.v.d. |
| | 2008 | Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. | Pello, R.; Martin, M.A.; Carelli, V.; Nijtmans, L.G.J.; Achilli, A.; Pala, M.; Torroni, A.; Gomez-Duran, A.; Ruiz-Pesini, E.; Martinuzzi, A.; Smeitink, J.A.M.; Arenas, J.; Ugalde, C. |
| | 2008 | Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. | Koopman, W.J.H.; Verkaart, S.; Emst-de Vries, S.E. van; Grefte, S.; Smeitink, J.A.M.; Nijtmans, L.G.J.; Willems, P.H.G.M. |
| | 2008 | A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. | Jonckheere, A.I.; Hogeveen, M.; Nijtmans, L.G.J.; Brand, M.A.M. van den; Janssen, A.J.M.; Diepstra, J.H.S.; Brandt, FC van den; Heuvel, L.P.W.J. van den; Hol, F.A.; Hofste, T.G.; Kapusta, L.; Dillmann, U.; Shamdeen, M.G.; Smeitink, J.A.M.; Rodenburg, R.J.T. |
| | 2007 | Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome. | Ugalde, C.; Hinttala, R.; Timal, S.; Smeets, R.; Rodenburg, R.J.T.; Uusimaa, J.; Heuvel, L.P.W.J. van den; Nijtmans, L.G.J.; Majamaa, K.; Smeitink, J.A.M. |
| | 2007 | Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients. | Vogel, R.O.; Brand, M.A.M. van den; Rodenburg, R.J.T.; Heuvel, L.P.W.J. van den; Tsuneoka, M.; Smeitink, J.A.M.; Nijtmans, L.G.J. |
| | 2007 | Human mitochondrial complex I assembly: a dynamic and versatile process. | Vogel, R.O.; Smeitink, J.A.M.; Nijtmans, L.G.J. |
| | 2007 | Human NADH : ubiquinone oxidoreductase deficiency : radical changes in mitochondrial morphology? | Koopman, W.J.H.; Verkaart, S.A.J.; Visch, H.J.; Vries, S. de; Nijtmans, L.G.J.; Smeitink, J.A.M.; Willems, P.H.G.M. |
| | 2007 | Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. | Vogel, R.O.; Janssen, R.J.R.J.; Brand, M.A.M. van den; Dieteren, C.E.J.; Verkaart, S.A.J.; Koopman, W.J.H.; Willems, P.H.G.M.; Pluk, W.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Nijtmans, L.G.J. |
| | 2007 | Superoxide production is inversely related to complex I activity in inherited complex I deficiency. | Verkaart, S.A.J.; Koopman, W.J.H.; Emst-de Vries, S.E. van; Nijtmans, L.G.J.; Heuvel, L.W. van den; Smeitink, J.A.M.; Willems, P.H.G.M. |
| | 2007 | Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits. | Vogel, R.O.; Dieteren, C.E.J.; Heuvel, L.P.W.J. van den; Willems, P.H.G.M.; Smeitink, J.A.M.; Koopman, W.J.H.; Nijtmans, L.G.J. |
| | 2006 | The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report. | Coenen, M.J.H.; Smeitink, J.A.M.; Farhoud, M.H.; Nijtmans, L.G.J.; Rodenburg, R.J.T.; Janssen, A.; Kaauwen, P.M. van; Trijbels, J.M.F.; Heuvel, L.P.W.J. van den |
| | 2006 | Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations. | Morava, E.; Rodenburg, R.J.T.; Hol, F.A.; Vries, M. de; Janssen, A.; Heuvel, L.P.W.J. van den; Nijtmans, L.G.J.; Smeitink, J.A.M. |
| | 2006 | Mitochondrial complex I: structure, function and pathology. | Janssen, R.J.R.J.; Nijtmans, L.G.J.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M. |
| | 2006 | Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. | Schwab, M.A.; Sauer, S.W.; Okun, J.G.; Nijtmans, L.G.J.; Rodenburg, R.J.T.; Heuvel, L.P.W.J. van den; Drose, S.; Brandt, U.; Hoffmann, G.F.; Laak, H.J. ter; Kolker, S.; Smeitink, J.A.M. |
| | 2005 | Human mitochondrial complex I assembly is mediated by NDUFAF1. | Vogel, R.O.; Janssen, R.J.R.J.; Ugalde, C.; Grovenstein, M.; Huijbens, R.J.F.; Visch, H.J.; Heuvel, L.P.W.J. van den; Willems, P.H.G.M.; Zeviani, M.; Smeitink, J.A.M.; Nijtmans, L.G.J. |
| | 2005 | A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. | Blakely, E.L.; Mitchell, A.L.; Fisher, N.; Meunier, B.; Nijtmans, L.G.J.; Schaefer, A.M.; Jackson, M.J.; Turnbull, D.M.; Taylor, R.W. |
| | 2004 | Cell Biological Consequences of Mitochondrial NADH : Ubiquinone Oxidoreductase Deficiency | Smeitink, J.A.M.; Heuvel, L.P.W.J. van den; Koopman, W.J.H.; Nijtmans, L.G.J.; Ugalde, C.; Willems, P.H.G.M. |
| | 2004 | Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. | Coenen, M.J.H.; Heuvel, L.P.W.J. van den; Ugalde, C.; Brinke, M. ten; Nijtmans, L.G.J.; Trijbels, J.M.F.; Beblo, S.; Maier, E.M.; Muntau, A.C.; Smeitink, J.A.M. |
| | 2004 | Complex I assembly: a puzzling problem. | Vogel, R.O.; Nijtmans, L.G.J.; Ugalde, C.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M. |
| | 2004 | Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. | Ugalde, C.; Janssen, R.J.R.J.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Nijtmans, L.G.J. |
| | 2004 | Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies. | Ugalde, C.; Vogel, R.O.; Huijbens, R.J.F.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Nijtmans, L.G.J. |
| | 1995 | Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy | Nijtmans, L.G.J.; Barth, P.G.; Lincke, C.R.; Galen, M.J.M. van; Zwart, R.; Klement, P.; Bolhuis, P.A.; Ruitenbeek, W.; Wanders, R.J.A.; Bogert, C. van den |
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