Golgi matrix proteins interact with p24 cargo receptors and aid their efficient retention in the Golgi apparatus

द्वारा Barr, Francis A., Preisinger, Christian, Kopajtich, Robert, Körner, Roman
प्रकाशित 2001

A GRASP55-rab2 effector complex linking Golgi structure to membrane traffic

द्वारा Short, Benjamin, Preisinger, Christian, Körner, Roman, Kopajtich, Robert, Byron, Olwyn, Barr, Francis A.
प्रकाशित 2001

Plk1 docking to GRASP65 phosphorylated by Cdk1 suggests a mechanism for Golgi checkpoint signalling

द्वारा Preisinger, Christian, Körner, Roman, Wind, Mathias, Lehmann, Wolf D, Kopajtich, Robert, Barr, Francis A
प्रकाशित 2005

Identification of a Novel Variant in MT-CO3 Causing MELAS

द्वारा Xu, Manting, Kopajtich, Robert, Elstner, Matthias, Wang, Zhaoxia, Liu, Zhimei, Wang, Junling, Prokisch, Holger, Fang, Fang
में प्रकाशित Front Genet (2021)

Phosphorylation of mitotic kinesin-like protein 2 by polo-like kinase 1 is required for cytokinesis

द्वारा Neef, Rüdiger, Preisinger, Christian, Sutcliffe, Josephine, Kopajtich, Robert, Nigg, Erich A., Mayer, Thomas U., Barr, Francis A.
प्रकाशित 2003

YSK1 is activated by the Golgi matrix protein GM130 and plays a role in cell migration through its substrate 14-3-3ζ

द्वारा Preisinger, Christian, Short, Benjamin, De Corte, Veerle, Bruyneel, Erik, Haas, Alexander, Kopajtich, Robert, Gettemans, Jan, Barr, Francis A.
प्रकाशित 2004

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

द्वारा Yépez, Vicente A., Kremer, Laura S., Iuso, Arcangela, Gusic, Mirjana, Kopajtich, Robert, Koňaříková, Eliška, Nadel, Agnieszka, Wachutka, Leonhard, Prokisch, Holger, Gagneur, Julien
में प्रकाशित PLoS One (2018)

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

द्वारा Synofzik, Matthis, Haack, Tobias B., Kopajtich, Robert, Gorza, Matteo, Rapaport, Doron, Greiner, Markus, Schönfeld, Caroline, Freiberg, Clemens, Schorr, Stefan, Holl, Reinhard W., Gonzalez, Michael A., Fritsche, Andreas, Fallier-Becker, Petra, Zimmermann, Richard, Strom, Tim M., Meitinger, Thomas, Züchner, Stephan, Schüle, Rebecca, Schöls, Ludger, Prokisch, Holger
में प्रकाशित Am J Hum Genet (2014)

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

द्वारा Synofzik, Matthis, Haack, Tobias B., Kopajtich, Robert, Gorza, Matteo, Rapaport, Doron, Greiner, Markus, Schönfeld, Caroline, Freiberg, Clemens, Schorr, Stefan, Holl, Reinhard W., Gonzalez, Michael A., Fritsche, Andreas, Fallier-Becker, Petra, Zimmermann, Richard, Strom, Tim M., Meitinger, Thomas, Züchner, Stephan, Schüle, Rebecca, Schöls, Ludger, Prokisch, Holger
में प्रकाशित Am J Hum Genet (2015)

ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

द्वारा Haack, Tobias B., Kopajtich, Robert, Freisinger, Peter, Wieland, Thomas, Rorbach, Joanna, Nicholls, Thomas J., Baruffini, Enrico, Walther, Anett, Danhauser, Katharina, Zimmermann, Franz A., Husain, Ralf A., Schum, Jessica, Mundy, Helen, Ferrero, Ileana, Strom, Tim M., Meitinger, Thomas, Taylor, Robert W., Minczuk, Michal, Mayr, Johannes A., Prokisch, Holger
प्रकाशित 2013

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

द्वारा Baruffini, Enrico, Dallabona, Cristina, Invernizzi, Federica, Yarham, John W, Melchionda, Laura, Blakely, Emma L, Lamantea, Eleonora, Donnini, Claudia, Santra, Saikat, Vijayaraghavan, Suresh, Roper, Helen P, Burlina, Alberto, Kopajtich, Robert, Walther, Anett, Strom, Tim M, Haack, Tobias B, Prokisch, Holger, Taylor, Robert W, Ferrero, Ileana, Zeviani, Massimo, Ghezzi, Daniele
प्रकाशित 2013

De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

द्वारा Riedhammer, Korbinian M, Stockler, Sylvia, Ploski, Rafal, Wenzel, Maren, Adis-Dutschmann, Burkhard, Ahting, Uwe, Alhaddad, Bader, Blaschek, Astrid, Haack, Tobias B, Kopajtich, Robert, Lee, Jessica, Murcia Pienkowski, Victor, Pollak, Agnieszka, Szymanska, Krystyna, Tarailo-Graovac, Maja, van der Lee, Robin, van Karnebeek, Clara D, Meitinger, Thomas, Krägeloh-Mann, Ingeborg, Vill, Katharina
में प्रकाशित Brain (2020)

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

द्वारा Powell, Christopher A., Kopajtich, Robert, D’Souza, Aaron R., Rorbach, Joanna, Kremer, Laura S., Husain, Ralf A., Dallabona, Cristina, Donnini, Claudia, Alston, Charlotte L., Griffin, Helen, Pyle, Angela, Chinnery, Patrick F., Strom, Tim M., Meitinger, Thomas, Rodenburg, Richard J., Schottmann, Gudrun, Schuelke, Markus, Romain, Nadine, Haller, Ronald G., Ferrero, Ileana, Haack, Tobias B., Taylor, Robert W., Prokisch, Holger, Minczuk, Michal
में प्रकाशित Am J Hum Genet (2015)

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

द्वारा Kopajtich, Robert, Murayama, Kei, Janecke, Andreas R., Haack, Tobias B., Breuer, Maximilian, Knisely, A.S., Harting, Inga, Ohashi, Toya, Okazaki, Yasushi, Watanabe, Daisaku, Tokuzawa, Yoshimi, Kotzaeridou, Urania, Kölker, Stefan, Sauer, Sven, Carl, Matthias, Straub, Simon, Entenmann, Andreas, Gizewski, Elke, Feichtinger, René G., Mayr, Johannes A., Lackner, Karoline, Strom, Tim M., Meitinger, Thomas, Müller, Thomas, Ohtake, Akira, Hoffmann, Georg F., Prokisch, Holger, Staufner, Christian
में प्रकाशित Am J Hum Genet (2016)

Genetic diagnosis of Mendelian disorders via RNA sequencing

द्वारा Kremer, Laura S., Bader, Daniel M., Mertes, Christian, Kopajtich, Robert, Pichler, Garwin, Iuso, Arcangela, Haack, Tobias B., Graf, Elisabeth, Schwarzmayr, Thomas, Terrile, Caterina, Koňaříková, Eliška, Repp, Birgit, Kastenmüller, Gabi, Adamski, Jerzy, Lichtner, Peter, Leonhardt, Christoph, Funalot, Benoit, Donati, Alice, Tiranti, Valeria, Lombes, Anne, Jardel, Claude, Gläser, Dieter, Taylor, Robert W., Ghezzi, Daniele, Mayr, Johannes A., Rötig, Agnes, Freisinger, Peter, Distelmaier, Felix, Strom, Tim M., Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
में प्रकाशित Nat Commun (2017)

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities

द्वारा Cousin, Margot A., Conboy, Erin, Wang, Jian-She, Lenz, Dominic, Schwab, Tanya L., Williams, Monique, Abraham, Roshini S., Barnett, Sarah, El-Youssef, Mounif, Graham, Rondell P., Gutierrez Sanchez, Luz Helena, Hasadsri, Linda, Hoffmann, Georg F., Hull, Nathan C., Kopajtich, Robert, Kovacs-Nagy, Reka, Li, Jia-qi, Marx-Berger, Daniela, McLin, Valérie, McNiven, Mark A., Mounajjed, Taofic, Prokisch, Holger, Rymen, Daisy, Schulze, Ryan J., Staufner, Christian, Yang, Ye, Clark, Karl J., Lanpher, Brendan C., Klee, Eric W.
में प्रकाशित Am J Hum Genet (2019)

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

द्वारा Saoura, Makenzie, Powell, Christopher A., Kopajtich, Robert, Alahmad, Ahmad, AL‐Balool, Haya H., Albash, Buthaina, Alfadhel, Majid, Alston, Charlotte L., Bertini, Enrico, Bonnen, Penelope E., Bratkovic, Drago, Carrozzo, Rosalba, Donati, Maria A., Di Nottia, Michela, Ghezzi, Daniele, Goldstein, Amy, Haan, Eric, Horvath, Rita, Hughes, Joanne, Invernizzi, Federica, Lamantea, Eleonora, Lucas, Benjamin, Pinnock, Kyla‐Gaye, Pujantell, Maria, Rahman, Shamima, Rebelo‐Guiomar, Pedro, Santra, Saikat, Verrigni, Daniela, McFarland, Robert, Prokisch, Holger, Taylor, Robert W., Levinger, Louis, Minczuk, Michal
में प्रकाशित Hum Mutat (2019)

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

द्वारा Xu, Zhiwen, Lo, Wing-Sze, Beck, David B., Schuch, Luise A., Oláhová, Monika, Kopajtich, Robert, Chong, Yeeting E., Alston, Charlotte L., Seidl, Elias, Zhai, Liting, Lau, Ching-Fun, Timchak, Donna, LeDuc, Charles A., Borczuk, Alain C., Teich, Andrew F., Juusola, Jane, Sofeso, Christina, Müller, Christoph, Pierre, Germaine, Hilliard, Tom, Turnpenny, Peter D., Wagner, Matias, Kappler, Matthias, Brasch, Frank, Bouffard, John Paul, Nangle, Leslie A., Yang, Xiang-Lei, Zhang, Mingjie, Taylor, Robert W., Prokisch, Holger, Griese, Matthias, Chung, Wendy K., Schimmel, Paul
में प्रकाशित Am J Hum Genet (2018)

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

द्वारा Kennedy, Hannah, Haack, Tobias B., Hartill, Verity, Mataković, Lavinija, Baumgartner, E. Regula, Potter, Howard, Mackay, Richard, Alston, Charlotte L., O’Sullivan, Siobhan, McFarland, Robert, Connolly, Grainne, Gannon, Caroline, King, Richard, Mead, Scott, Crozier, Ian, Chan, Wandy, Florkowski, Chris M., Sage, Martin, Höfken, Thomas, Alhaddad, Bader, Kremer, Laura S., Kopajtich, Robert, Feichtinger, René G., Sperl, Wolfgang, Rodenburg, Richard J., Minet, Jean Claude, Dobbie, Angus, Strom, Tim M., Meitinger, Thomas, George, Peter M., Johnson, Colin A., Taylor, Robert W., Prokisch, Holger, Doudney, Kit, Mayr, Johannes A.
में प्रकाशित Am J Hum Genet (2016)

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

द्वारा Feichtinger, René G., Oláhová, Monika, Kishita, Yoshihito, Garone, Caterina, Kremer, Laura S., Yagi, Mikako, Uchiumi, Takeshi, Jourdain, Alexis A., Thompson, Kyle, D’Souza, Aaron R., Kopajtich, Robert, Alston, Charlotte L., Koch, Johannes, Sperl, Wolfgang, Mastantuono, Elisa, Strom, Tim M., Wortmann, Saskia B., Meitinger, Thomas, Pierre, Germaine, Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M., Lightowlers, Robert N., DiMauro, Salvatore, Calvo, Sarah E., Mootha, Vamsi K., Moggio, Maurizio, Sciacco, Monica, Comi, Giacomo P., Ronchi, Dario, Murayama, Kei, Ohtake, Akira, Rebelo-Guiomar, Pedro, Kohda, Masakazu, Kang, Dongchon, Mayr, Johannes A., Taylor, Robert W., Okazaki, Yasushi, Minczuk, Michal, Prokisch, Holger
में प्रकाशित Am J Hum Genet (2017)