Search Results - Radek Szklarczyk
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Control of mitochondrial integrity in ageing and disease by Radek Szklarczyk, Marco Nooteboom, Heinz D. Osiewacz
Published 2014Revisão -
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C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation by Bas F.J. Wanschers, Radek Szklarczyk, Aleksandra Pajak, Mariël A.M. van den Brand, Jolein Gloerich, Richard J. Rodenburg, Robert N. Lightowlers, Leo Nijtmans, Martijn A. Huynen
Published 2012Artigo -
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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 oxidas... by Radek Szklarczyk, Bas F.J. Wanschers, Thomas D. Cuypers, J.J. Esseling, Moniek Riemersma, Mariël AM van den Brand, Jolein Gloerich, Edwin Lasonder, Lambert P. van den Heuvel, Leo Nijtmans, Martijn A. Huynen
Published 2012Artigo -
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A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy by Merei Huigsloot, Leo Nijtmans, Radek Szklarczyk, Marieke J.H. Baars, Mariël A.M. van den Brand, Marthe G. M. Hendriks-Franssen, Lambertus P. van den Heuvel, Jan Smeitink, Martijn A. Huynen, Richard J. Rodenburg
Published 2011Artigo -
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BOLA1 Is an Aerobic Protein That Prevents Mitochondrial Morphology Changes Induced by Glutathione Depletion by Peter H.G.M. Willems, Bas F.J. Wanschers, J.J. Esseling, Radek Szklarczyk, Urszula Kudla, Isabel Duarte, Marleen Forkink, Marco Nooteboom, Herman G.P. Swarts, Jolein Gloerich, Leo Nijtmans, Werner J.H. Koopman, Martijn A. Huynen
Published 2012Artigo -
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A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability by Bas F.J. Wanschers, Radek Szklarczyk, Mariël A.M. van den Brand, An I. Jonckheere, Janneke Suijskens, Roel Smeets, Richard J. Rodenburg, Katharina Stephan, Ingrid B. Helland, Areej Elkamil, Terje Rootwelt, Martin Ott, Lambert van den Heuvel, Leo Nijtmans, Martijn A. Huynen
Published 2014Artigo -
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Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression by Elena J. Tucker, Bas F.J. Wanschers, Radek Szklarczyk, Hayley S. Mountford, Xiaonan W. Wijeyeratne, Mariël A.M. van den Brand, A. Meilinde Leenders, Richard J. Rodenburg, Boris Reljić, Alison G. Compton, Ann E. Frazier, Damien L. Bruno, John Christodoulou, Hitoshi Endo, Michael T. Ryan, Leo Nijtmans, Martijn A. Huynen, David R. Thorburn
Published 2013Artigo -
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A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia by Radek Szklarczyk, Bas F.J. Wanschers, Leo Nijtmans, Richard J. Rodenburg, Johannes Zschocke, Nicola Dikow, Mariël A.M. van den Brand, Marthe G. M. Hendriks-Franssen, Christian Gilissen, Joris A. Veltman, Marco Nooteboom, Werner J.H. Koopman, Peter H.G.M. Willems, Jan Smeitink, Martijn A. Huynen, Lambertus P. van den Heuvel
Published 2012Artigo -
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Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause by Tom E. J. Theunissen, Minh Nguyen, Rick Kamps, Alexandra T.M. Hendrickx, Suzanne C.E.H. Sallevelt, Ralph W.H. Gottschalk, Chantal Calis, Alphons P. M. Stassen, Bart de Koning, Elvira N. M. Mulder-Den Hartog, Kees Schoonderwoerd, Sabine A. Fuchs, Yvonne Hilhorst‐Hofstee, Marjolein Visser, Jo Vanoevelen, Radek Szklarczyk, Mike Gerards, I.F.M. de Coo, Debby M.E.I. Hellebrekers, Hubert J.M. Smeets
Published 2018Artigo -
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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder by Saskia B. Wortmann, Szymon Ziętkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B. Haack, Søren W. Gersting, Ania C. Muntau, Aleksandar Raković, G. Herma Renkema, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, M. Estela Rubio‐Gozalbo, Elżbieta Chruściel, Felix Distelmaier, Christelle Golzio, Joop H. Jansen, Clara D.M. van Karnebeek, Yolanda Lillquist, Thomas Lücke, Katrin Õunap, Riina Žordania, Joy Yaplito‐Lee, Hans van Bokhoven, Johannes N. Spelbrink, Frédéric M. Vaz, Mia L. Pras‐Raves, Rafał Płoski, Ewa Pronicka, Christine Klein, Michèl A.A.P. Willemsen, Arjan P.M. de Brouwer, Holger Prokisch, Nicholas Katsanis, Ron A. Wevers
Published 2015Artigo -
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CiliaCarta: An integrated and validated compendium of ciliary genes by Teunis J. P. van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A. Wunderlich, Suzanne Rix, Gerard W. Dougherty, Nils J. Lambacher, Chunmei Li, Victor L. Jensen, Michel R. Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan Frederik Scheel, Brunella Franco, Dorus A. Mans, Erwin van Wijk, François Képès, Gisela G. Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymańska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T. Nguyen, Stef J.F. Letteboer, Machteld M. Oud, Sylvia E. C. van Beersum, Miriam Schmidts, Philip L. Beales, Qianhao Lu, Rachel H. Giles, Radek Szklarczyk, Robert B. Russell, Toby J. Gibson, Colin A. Johnson, Oliver E. Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Víctor Hernández-Hernández, Martijn A. Huynen
Published 2019Artigo
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Computational biology
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Oxidative phosphorylation
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