Ribosome profiling reveals features of normal and disease-associated mitochondrial translation
Rooijers, Koos, Loayza-Puch, Fabricio, Nijtmans, Leo G, Agami, Reuven
Published in Nature communications (03.12.2013)
Published in Nature communications (03.12.2013)
Get full text
Journal Article
TEFM (c17orf42) is necessary for transcription of human mtDNA
Minczuk, Michal, He, Jiuya, Duch, Anna M, Ettema, Thijs J, Chlebowski, Aleksander, Dzionek, Karol, Nijtmans, Leo G J, Huynen, Martijn A, Holt, Ian J
Published in Nucleic acids research (01.05.2011)
Published in Nucleic acids research (01.05.2011)
Get full text
Journal Article
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
WORTMANN, Saskia B, VAZ, Frederic M, RODENBURG, Richard J, NIJTMANS, Leo G. J, GRÜNEWALD, Anne, KLEIN, Christine, GERHOLD, Joachim M, KOZICZ, Tamas, VAN HASSELT, Peter M, HARAKALOVA, Magdalena, KLOOSTERMAN, Wigard, BARIC, Ivo, GARDEITCHIK, Thatjana, PRONICKA, Ewa, KALKAN UCAR, Sema, NAESS, Karin, SINGHAL, Kapil K, KRUMINA, Zita, GILISSEN, Christian, VAN BOKHOVEN, Hans, VELTMAN, Joris A, SMEITINK, Jan A. M, LEFEBER, Dirk J, VISSERS, Lisenka Elm, SPELBRINK, Johannes N, WEVERS, Ron A, MORAVA, Eva, DE BROUWER, Arjan P. M, HERMA RENKEMA, G, SCHUURS-HOEIJMAKERS, Janneke H. M, KULIK, Wim, LAMMENS, Martin, CHRISTIN, Christin, KLUIJTMANS, Leoaj
Published in Nature genetics (01.07.2012)
Published in Nature genetics (01.07.2012)
Get full text
Journal Article
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency
Sánchez-Caballero, Laura, Ruzzenente, Benedetta, Bianchi, Lucas, Assouline, Zahra, Barcia, Giulia, Metodiev, Metodi D., Rio, Marlène, Funalot, Benoît, van den Brand, Mariël A.M., Guerrero-Castillo, Sergio, Molenaar, Joery P., Koolen, David, Brandt, Ulrich, Rodenburg, Richard J., Nijtmans, Leo G., Rötig, Agnès
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
Get full text
Journal Article
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability
Wanschers, Bas F J, Szklarczyk, Radek, van den Brand, Mariël A M, Jonckheere, An, Suijskens, Janneke, Smeets, Roel, Rodenburg, Richard J, Stephan, Katharina, Helland, Ingrid B, Elkamil, Areej, Rootwelt, Terje, Ott, Martin, van den Heuvel, Lambert, Nijtmans, Leo G, Huynen, Martijn A
Published in Human molecular genetics (01.12.2014)
Published in Human molecular genetics (01.12.2014)
Get full text
Journal Article
Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
Saada, Ann, Vogel, Rutger O., Hoefs, Saskia J., van den Brand, Mariël A., Wessels, Hans J., Willems, Peter H., Venselaar, Hanka, Shaag, Avraham, Barghuti, Flora, Reish, Orit, Shohat, Mordechai, Huynen, Martijn A., Smeitink, Jan A.M., van den Heuvel, Lambert P., Nijtmans, Leo G.
Published in American journal of human genetics (12.06.2009)
Published in American journal of human genetics (12.06.2009)
Get full text
Journal Article
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins
Schwab, Marina A, Sauer, Sven W, Okun, Jürgen G, Nijtmans, Leo G J, Rodenburg, Richard J T, van den Heuvel, Lambert P, Dröse, Stefan, Brandt, Ulrich, Hoffmann, Georg F, Ter Laak, Henk, Kölker, Stefan, Smeitink, Jan A M
Published in Biochemical journal (15.08.2006)
Published in Biochemical journal (15.08.2006)
Get full text
Journal Article
Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase
Szklarczyk, Radek, Wanschers, Bas Fj, Cuypers, Thomas D, Esseling, John J, Riemersma, Moniek, van den Brand, Mariël Am, Gloerich, Jolein, Lasonder, Edwin, van den Heuvel, Lambert P, Nijtmans, Leo G, Huynen, Martijn A
Published in Genome biology (22.02.2012)
Published in Genome biology (22.02.2012)
Get full text
Journal Article
Mitochondrial complex I: Structure, function and pathology
Janssen, Rolf J. R. J., Nijtmans, Leo G., Heuvel, Lambert P. van den, Smeitink, Jan A. M.
Published in Journal of inherited metabolic disease (01.08.2006)
Published in Journal of inherited metabolic disease (01.08.2006)
Get full text
Journal Article
Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology?
Koopman, Werner J. H, Verkaart, Sjoerd, Visch, Henk Jan, van Emst-de Vries, Sjenet, Nijtmans, Leo G. J, Smeitink, Jan A. M, Willems, Peter H. G. M
Published in American Journal of Physiology: Cell Physiology (01.07.2007)
Published in American Journal of Physiology: Cell Physiology (01.07.2007)
Get full text
Journal Article
Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy
Baertling, Fabian, A.M. van den Brand, Mariel, Hertecant, Jozef L., Al-Shamsi, Aisha, P. van den Heuvel, Lambert, Distelmaier, Felix, Mayatepek, Ertan, Smeitink, Jan A., Nijtmans, Leo G.J., Rodenburg, Richard J.T.
Published in Human mutation (01.01.2015)
Published in Human mutation (01.01.2015)
Get full text
Journal Article
Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling
Wessels, Hans J C T, Vogel, Rutger O, Lightowlers, Robert N, Spelbrink, Johannes N, Rodenburg, Richard J, van den Heuvel, Lambert P, van Gool, Alain J, Gloerich, Jolein, Smeitink, Jan A M, Nijtmans, Leo G
Published in PloS one (23.07.2013)
Published in PloS one (23.07.2013)
Get full text
Journal Article
NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I
Szklarczyk, Radek, Wanschers, Bas F.J., Nabuurs, Sander B., Nouws, Jessica, Nijtmans, Leo G., Huynen, Martijn A.
Published in FEBS letters (09.03.2011)
Published in FEBS letters (09.03.2011)
Get full text
Journal Article
LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes
Wessels, Hans J.C.T, Vogel, Rutger O, van den Heuvel, Lambert, Smeitink, Jan A, Rodenburg, Richard J, Nijtmans, Leo G, Farhoud, Murtada H
Published in Proteomics (Weinheim) (01.09.2009)
Published in Proteomics (Weinheim) (01.09.2009)
Get full text
Journal Article
A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
Huigsloot, Merei, Nijtmans, Leo G., Szklarczyk, Radek, Baars, Marieke J.H., van den Brand, Mariël A.M., HendriksFranssen, Marthe G.M., van den Heuvel, Lambertus P., Smeitink, Jan A.M., Huynen, Martijn A., Rodenburg, Richard J.T.
Published in American journal of human genetics (08.04.2011)
Published in American journal of human genetics (08.04.2011)
Get full text
Journal Article
Human mitochondrial complex I assembly is mediated by NDUFAF1
Vogel, Rutger O., Janssen, Rolf J. R. J., Ugalde, Cristina, Grovenstein, Melissa, Huijbens, Richard J, Visch, Henk‐Jan, van den Heuvel, Lambert P., Willems, Peter H., Zeviani, Massimo, Smeitink, Jan A. M., Nijtmans, Leo G. J.
Published in The FEBS journal (01.10.2005)
Published in The FEBS journal (01.10.2005)
Get full text
Journal Article
Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly
Vogel, Rutger O, Janssen, Rolf J R J, van den Brand, Mariël A M, Dieteren, Cindy E J, Verkaart, Sjoerd, Koopman, Werner J H, Willems, Peter H G M, Pluk, Wendy, van den Heuvel, Lambert P W J, Smeitink, Jan A M, Nijtmans, Leo G J
Published in Genes & development (01.03.2007)
Published in Genes & development (01.03.2007)
Get full text
Journal Article
Solute diffusion is hindered in the mitochondrial matrix
Dieteren, Cindy E.J, Gielen, Stan C.A.M, Nijtmans, Leo G.J, Smeitink, Jan A.M, Swarts, Herman G, Brock, Roland, Willems, Peter H.G.M, Koopman, Werner J.H
Published in Proceedings of the National Academy of Sciences - PNAS (24.05.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (24.05.2011)
Get full text
Journal Article
Identification of Mitochondrial Complex I Assembly Intermediates by Tracing Tagged NDUFS3 Demonstrates the Entry Point of Mitochondrial Subunits
Vogel, Rutger O., Dieteren, Cindy E.J., van den Heuvel, Lambert P. W.J., Willems, Peter H. G.M., Smeitink, Jan A.M., Koopman, Werner J.H., Nijtmans, Leo G.J.
Published in The Journal of biological chemistry (09.03.2007)
Published in The Journal of biological chemistry (09.03.2007)
Get full text
Journal Article