Search Results - Szklarczyk, Radek

Expansion of the human mitochondrial proteome by intra- and inter-compartmental protein duplication by Szklarczyk, Radek, Huynen, Martijn A

Get full text Get full text Get full text

Complex fate of paralogs by Szklarczyk, Radek, Huynen, Martijn A, Snel, Berend

Get full text Get full text Get full text

Control of mitochondrial integrity in ageing and disease by Szklarczyk, Radek, Nooteboom, Marco, Osiewacz, Heinz D.

Get full text Get full text Get full text

Rapid asymmetric evolution of a dual-coding tumor suppressor INK4a/ARF locus contradicts its function by Szklarczyk, Radek, Heringa, Jaap, Pond, Sergei Kosakovsky, Nekrutenko, Anton

Get full text Get full text Get full text

A First Look at ARFome: Dual-Coding Genes in Mammalian Genomes by Chung, Wen-Yu, Wadhawan, Samir, Szklarczyk, Radek, Pond, Sergei Kosakovsky, Nekrutenko, Anton

Get full text Get full text Get full text

Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system by van der Lee, Robin, Szklarczyk, Radek, Smeitink, Jan, Smeets, Hubert J M, Huynen, Martijn A., Vogel, Rutger

Get full text Get full text Get full text

Olfactory receptor genes cooperate with protocadherin genes in human extreme obesity by Mariman, Edwin C. M., Szklarczyk, Radek, Bouwman, Freek G., Aller, Erik E. J. G., van Baak, Marleen A., Wang, Ping

Get full text Get full text Get full text

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation by Wanschers, Bas F. J., Szklarczyk, Radek, Pajak, Aleksandra, van den Brand, Mariël A. M., Gloerich, Jolein, Rodenburg, Richard J. T., Lightowlers, Robert N., Nijtmans, Leo G., Huynen, Martijn A.

Get full text Get full text Get full text

BOLA1 Is an Aerobic Protein That Prevents Mitochondrial Morphology Changes Induced by Glutathione Depletion by Willems, Peter, Wanschers, Bas F.J., Esseling, John, Szklarczyk, Radek, Kudla, Urszula, Duarte, Isabel, Forkink, Marleen, Nooteboom, Marco, Swarts, Herman, Gloerich, Jolein, Nijtmans, Leo, Koopman, Werner, Huynen, Martijn A.

Get full text Get full text Get full text

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 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

Get full text Get full text Get full text

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy by 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.

Get full text Get full text Get full text

Network topology of NaV1.7 mutations in sodium channel-related painful disorders by Kapetis, Dimos, Sassone, Jenny, Yang, Yang, Galbardi, Barbara, Xenakis, Markos N., Westra, Ronald L., Szklarczyk, Radek, Lindsey, Patrick, Faber, Catharina G., Gerrits, Monique, Merkies, Ingemar S. J., Dib-Hajj, Sulayman D., Mantegazza, Massimo, Waxman, Stephen G., Lauria, Giuseppe

Get full text Get full text Get full text

FACIL: Fast and Accurate Genetic Code Inference and Logo by Dutilh, Bas E., Jurgelenaite, Rasa, Szklarczyk, Radek, van Hijum, Sacha A.F.T., Harhangi, Harry R., Schmid, Markus, de Wild, Bart, Françoijs, Kees−Jan, Stunnenberg, Hendrik G., Strous, Marc, Jetten, Mike S.M., Op den Camp, Huub J.M., Huynen, Martijn A.

Get full text Get full text Get full text

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect by Theunissen, Tom E. J., Gerards, Mike, Hellebrekers, Debby M. E. I., van Tienen, Florence H., Kamps, Rick, Sallevelt, Suzanne C. E. H., Hartog, Elvira N. M. M.-D., Scholte, Hans R., Verdijk, Robert M., Schoonderwoerd, Kees, de Coo, Irenaeus F. M., Szklarczyk, Radek, Smeets, Hubert J. M.

Get full text Get full text Get full text

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects by Theunissen, Tom E. J., Szklarczyk, Radek, Gerards, Mike, Hellebrekers, Debby M. E. I., Mulder-Den Hartog, Elvira N. M., Vanoevelen, Jo, Kamps, Rick, de Koning, Bart, Rutledge, S. Lane, Schmitt-Mechelke, Thomas, van Berkel, Carola G. M., van der Knaap, Marjo S., de Coo, Irenaeus F. M., Smeets, Hubert J. M.

Get full text Get full text Get full text

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease by Kamps, Rick, Szklarczyk, Radek, Theunissen, Tom E., Hellebrekers, Debby M. E. I., Sallevelt, Suzanne C. E. H., Boesten, Iris B., de Koning, Bart, van den Bosch, Bianca J., Salomons, Gajja S., Simas-Mendes, Marisa, Verdijk, Rob, Schoonderwoerd, Kees, de Coo, Irenaeus F. M., Vanoevelen, Jo M., Smeets, Hubert J. M.

Get full text Get full text Get full text

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression by Tucker, Elena J., Wanschers, Bas F. J., Szklarczyk, Radek, Mountford, Hayley S., Wijeyeratne, Xiaonan W., van den Brand, Mariël A. M., Leenders, Anne M., Rodenburg, Richard J., Reljić, Boris, Compton, Alison G., Frazier, Ann E., Bruno, Damien L., Christodoulou, John, Endo, Hitoshi, Ryan, Michael T., Nijtmans, Leo G., Huynen, Martijn A., Thorburn, David R.

Get full text Get full text Get full text

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers by Verdonschot, Job A. J., Robinson, Emma L., James, Kiely N., Mohamed, Mohamed W., Claes, Godelieve R. F., Casas, Kari, Vanhoutte, Els K., Hazebroek, Mark R., Kringlen, Gabriel, Pasierb, Michele M., van den Wijngaard, Arthur, Glatz, Jan F. C., Heymans, Stephane R. B., Krapels, Ingrid P. C., Nahas, Shareef, Brunner, Han G., Szklarczyk, Radek

Get full text Get full text Get full text

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause by Theunissen, Tom E. J., Nguyen, Minh, Kamps, Rick, Hendrickx, Alexandra T., Sallevelt, Suzanne C. E. H., Gottschalk, Ralph W. H., Calis, Chantal M., Stassen, Alphons P. M., de Koning, Bart, Mulder-Den Hartog, Elvira N. M., Schoonderwoerd, Kees, Fuchs, Sabine A., Hilhorst-Hofstee, Yvonne, de Visser, Marianne, Vanoevelen, Jo, Szklarczyk, Radek, Gerards, Mike, de Coo, Irenaeus F. M., Hellebrekers, Debby M. E. I., Smeets, Hubert J. M.

Get full text Get full text Get full text

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy by Zazo Seco, Celia, Castells-Nobau, Anna, Joo, Seol-hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S. Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M., Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P., Khor, Chiea Chuen, Göpfert, Martin C., Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima

Get full text Get full text Get full text