Universität zu Köln

2022

Elsnicova, Barbara, Hornikova, Daniela, Tibenska, Veronika, Kolar, David, Tlapakova, Tereza ORCID: 0000-0001-8841-1573, Schmid, Benjamin ORCID: 0000-0002-9327-2296, Mallek, Markus, Eggers, Britta ORCID: 0000-0002-6553-4631, Schloetzer-Schrehardt, Ursula, Peeva, Viktoriya ORCID: 0000-0001-8007-017X, Berwanger, Carolin, Eberhard, Bettina, Durmus, Hacer, Schultheis, Dorothea, Holtzhausen, Christian, Schork, Karin ORCID: 0000-0003-3756-4347, Marcus, Katrin, Jordan, Jens, Luecke, Thomas ORCID: 0000-0001-6875-6582, van der Ven, Peter F. M., Schroeder, Rolf, Clemen, Christoph S. and Zurmanova, Jitka M. (2022). Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis. Int. J. Mol. Sci., 23 (19). BASEL: MDPI. ISSN 1422-0067

Spoerrer, Marina, Kah, Delf, Gerum, Richard C., Reischl, Barbara, Huraskin, Danyil, Dessalles, Claire A., Schneider, Werner, Goldmann, Wolfgang H., Herrmann, Harald, Thievessen, Ingo, Clemen, Christoph S., Friedrich, Oliver, Hashemolhosseini, Said, Schroeder, Rolf and Fabry, Ben (2022). The desmin mutation R349P increases contractility and fragility of stem cell-generated muscle micro-tissues. Neuropathol. Appl. Neurobiol., 48 (3). HOBOKEN: WILEY. ISSN 1365-2990

2021

Rees, Martin, Nikoopour, Roksana, Fukuzawa, Atsushi, Kho, Ay Lin, Fernandez-Garcia, Miguel A., Wraige, Elizabeth, Bodi, Istvan, Deshpande, Charu, Oezdemir, Oezkan, Daimagueler, Hulya-Sevcan, Pfuhl, Mark, Holt, Mark, Brandmeier, Birgit, Grover, Sarah, Fluss, Joel, Longman, Cheryl, Farrugia, Maria Elena, Matthews, Emma ORCID: 0000-0002-3810-306X, Hanna, Michael ORCID: 0000-0003-0825-4075, Muntoni, Francesco, Sarkozy, Anna, Phadke, Rahul, Quinlivan, Ros, Oates, Emily C., Schroeder, Rolf, Thiel, Christian, Reimann, Jens ORCID: 0000-0003-3349-6877, Voermans, Nicol, Erasmus, Corrie, Kamsteeg, Erik-Jan, Konersman, Chaminda, Grosmann, Carla, McKee, Shane, Tirupathi, Sandya, Moore, Steven A., Wilichowski, Ekkehard, Hobbiebrunken, Elke, Dekomien, Gabriele, Richard, Isabelle, Van den Bergh, Peter, Dominguez-Gonzalez, Cristina, Cirak, Sebahattin, Ferreiro, Ana, Jungbluth, Heinz and Gautel, Mathias (2021). Making sense of missense variants in TTN-related congenital myopathies. Acta Neuropathol., 141 (3). S. 431 - 454. NEW YORK: SPRINGER. ISSN 1432-0533

2020

De Ridder, Willem, Azmi, Abdelkrim, Clemen, Christoph S., Eichinger, Ludwig, Hofmann, Andreas, Schroeder, Rolf, Johnson, Katherine ORCID: 0000-0002-3593-7966, Topf, Ana, Straub, Volker ORCID: 0000-0001-9046-3540, De Jonghe, Peter, Maudsley, Stuart, De Bleecker, Jan L. and Baets, Jonathan (2020). Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected. Neurology, 94 (8). S. E785 - 12. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Herrmann, Harald, Cabet, Eva, Chevalier, Nicolas R., Moosmann, Julia, Schultheis, Dorothea, Haas, Jan, Schowalter, Mirjam, Berwanger, Carolin, Weyerer, Veronika, Agaimy, Abbas, Meder, Benjamin, Muller, Oliver J., Katus, Hugo A., Schlotzer-Schrehardt, Ursula, Vicart, Patrick, Ferreiro, Ana, Dittrich, Sven, Clemen, Christoph S., Lilienbaum, Alain and Schroeder, Rolf (2020). Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice. Circulation, 142 (22). S. 2155 - 2172. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1524-4539

Pollmann, Charlotte, Haug, Michael, Reischl, Barbara, Proelss, Gerhard, Poeschel, Thorsten, Rupitsch, Stefan J., Clemen, Christoph S., Schroeder, Rolf and Friedrich, Oliver ORCID: 0000-0003-2238-2049 (2020). Growing Old Too Early: Skeletal Muscle Single Fiber Biomechanics in Ageing R349P Desmin Knock-in Mice Using the MyoRobot Technology. Int. J. Mol. Sci., 21 (15). BASEL: MDPI. ISSN 1422-0067

Schuld, Julia, Orfanos, Zacharias, Chevessier, Frederic, Eggers, Britta ORCID: 0000-0002-6553-4631, Heil, Lorena, Uszkoreit, Julian, Unger, Andreas, Kirfel, Gregor, van der Ven, Peter F. M., Marcus, Katrin, Linke, Wolfgang A., Clemen, Christoph S., Schroeder, Rolf and Fuerst, Dieter O. (2020). Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation. Acta Neuropathol. Commun., 8 (1). LONDON: BMC. ISSN 2051-5960

Stoeckigt, Florian, Eichhorn, Lars ORCID: 0000-0002-9769-0639, Beiert, Thomas, Knappe, Vincent, Radecke, Tobias, Steinmetz, Martin, Nickenig, Georg, Peeva, Viktoriya, Kudin, Alexei P., Kunz, Wolfram S., Berwanger, Carolin, Kamm, Lisa, Schultheis, Dorothea, Schloetzer-Schrehardt, Ursula, Clemen, Christoph S., Schroeder, Rolf and Schrickel, Jan W. (2020). Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice. PLoS One, 15 (3). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

2019

Haug, Michael, Meyer, Charlotte, Reischl, Barbara, Proelss, Gerhard, Vetter, Kristina, Iberl, Julian, Nuebler, Stefanie, Schuermann, Sebastian, Rupitsch, Stefan J., Heckel, Michael, Poeschel, Thorsten, Winter, Lilli ORCID: 0000-0002-6368-1160, Herrmann, Harald, Clemen, Christoph S., Schroeder, Rolf and Friedrich, Oliver ORCID: 0000-0003-2238-2049 (2019). The MyoRobot technology discloses a premature biomechanical decay of skeletal muscle fiber bundles derived from R349P desminopathy mice. Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Solga, Roxana, Behrens, Juliane, Ziemann, Anja, Riou, Adrien, Berwanger, Carolin, Becker, Lore ORCID: 0000-0002-6890-4984, Garrett, Lillian ORCID: 0000-0003-4880-7076, de Angelis, Martin Hrabe ORCID: 0000-0002-7898-2353, Fischer, Lisa, Coras, Roland, Barkovits, Katalin, Marcus, Katrin, Mahabir, Esther, Eichinger, Ludwig ORCID: 0000-0003-1594-6117, Schroeder, Rolf, Noegel, Angelika A., Clemen, Christoph S., Aguilar-Pimentel, Antonio, Schmidt-Weber, Carsten, Klopstock, Thomas, Adler, Thure, Treisel, Irina, Busch, Dirk H., Moreth, Kristin, Hoelter, Sabine M., Zimprich, Annemarie, Wurst, Wolfgang, Amarie, Oana, Graw, Jochen, Rozman, Jan, Calzada-Wack, Julia, Racz, Ildiko, Rathkolb, Birgit, Wolf, Eckhard, Oestereicher, Manuela, Miller, Gregor, Lengger, Christoph, Maier, Holger, Stoeger, Claudia, Leuchtenberger, Stefanie, Gallus-Durner, Valerie and Fuchs, Helmut (2019). CRN2 binds to TIMP4 and MMP14 and promotes perivascular invasion of glioblastoma cells. Eur. J. Cell Biol., 98 (5-8). MUNICH: ELSEVIER GMBH. ISSN 1618-1298

2018

Clemen, Christoph S., Winter, Lilli ORCID: 0000-0002-6368-1160, Strucksberg, Karl-Heinz, Berwanger, Carolin, Tuerk, Matthias, Kornblum, Cornelia, Florin, Alexandra, Aguilar-Pimentel, Juan Antonio, Amarie, Oana Veronica, Becker, Lore ORCID: 0000-0002-6890-4984, Garrett, Lillian ORCID: 0000-0003-4880-7076, Hans, Wolfgang, Moreth, Kristin, Neff, Frauke, Pingen, Laura, Rathkolb, Birgit, Racz, Ildika, Rozman, Jan ORCID: 0000-0002-8035-8904, Treise, Irina, Fuchs, Helmut, Gailus-Durner, Valerie, de Angelis, Martin Hrabe ORCID: 0000-0002-7898-2353, Vorgerd, Matthias, Eichinger, Ludwig ORCID: 0000-0003-1594-6117 and Schroeder, Rolf (2018). The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice? Biochem. Biophys. Res. Commun., 503 (4). S. 2770 - 2778. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1090-2104

Kustermann, Monika, Manta, Linda, Paone, Christoph, Kustermann, Jochen, Lausser, Ludwig, Wiesner, Cora, Eichinger, Ludwig ORCID: 0000-0003-1594-6117, Clemen, Christoph S., Schroeder, Rolf, Kestler, Hans A., Sandri, Marco, Rottbauer, Wolfgang and Just, Steffen (2018). Loss of the novel Vcp (valosin containing protein) interactor Washc4 interferes with autophagy-mediated proteostasis in striated muscle and leads to myopathy in vivo. Autophagy, 14 (11). S. 1911 - 1928. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1554-8635

Mengel, David, Librizzi, Damiano, Schoser, Benedikt, Glaeser, Dieter, Clemen, Christoph S., Dodel, Richard and Schroeder, Rolf (2018). Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy. Forschritte Neurol. Psychiatr., 86 (7). S. 434 - 439. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3522

Song, Lin, Rijal, Ramesh ORCID: 0000-0003-0498-1064, Karow, Matte, Stumpf, Maria, Hahn, Oliver ORCID: 0000-0001-9015-4545, Park, Laura, Insall, Robert ORCID: 0000-0003-4898-040X, Schroeder, Rolf, Hofmann, Andreas ORCID: 0000-0003-4408-5467, Clemen, Christoph S. and Eichinger, Ludwig ORCID: 0000-0003-1594-6117 (2018). Expression of N471D strumpellin leads to defects in the endolysosomal system. Dis. Model. Mech., 11 (9). CAMBRIDGE: COMPANY BIOLOGISTS LTD. ISSN 1754-8411

2017

Diermeier, Stefanie, Buttgereit, Andreas, Schuermann, Sebastian, Winter, Lilli ORCID: 0000-0002-6368-1160, Xu, Hongyang, Murphy, Robyn M., Clemen, Christoph S., Schroeder, Rolf and Friedrich, Oliver ORCID: 0000-0003-2238-2049 (2017). Preaged remodeling of myofibrillar cytoarchitecture in skeletal muscle expressing R349P mutant desmin. Neurobiol. Aging, 58. S. 77 - 88. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-1497

Diermeier, Stefanie, Iberl, Julian, Vetter, Kristina, Haug, Michael, Pollmann, Charlotte, Reischl, Barbara, Buttgereit, Andreas, Schuermann, Sebastian, Spoerrer, Marina, Goldmann, Wolfgang H., Fabry, Ben ORCID: 0000-0003-1737-0465, Elhamine, Fatiha, Stehle, Robert, Pfitzer, Gabriele, Winter, Lilli ORCID: 0000-0002-6368-1160, Clemen, Christoph S., Herrmann, Harald, Schroeder, Rolf and Friedrich, Oliver ORCID: 0000-0003-2238-2049 (2017). Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in mice. Sci Rep, 7. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Tuerk, Matthias, Schroeder, Rolf, Khuller, Katharina, Hofmann, Andreas ORCID: 0000-0003-4408-5467, Berwanger, Carolin, Ludolph, Albert C., Dekomien, Gabriele, Mueller, Kathrin, Weishaupt, Jochen H., Thiel, Christian T. and Clemen, Christoph S. (2017). Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients. Neurobiol. Aging, 56. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1558-1497

2016

Durmus, Hacer, Ayhan, Ozgecan, Cirak, Sebahattin, Deymeer, Feza, Parman, Yesim, Franke, Andre ORCID: 0000-0003-1530-5811, Eiber, Nane, Chevessier, Frederic, Schloetzer-Schrehardt, Ursula, Clemen, Christoph S., Hashemolhosseini, Said ORCID: 0000-0002-6564-5649, Schroeder, Rolf, Hemmrich-Stanisak, Georg, Tolun, Aslihan ORCID: 0000-0002-0328-6046 and Serdaroglu-Oflazer, Piraye (2016). Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice. Neurology, 87 (8). S. 799 - 806. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Rijal, Ramesh ORCID: 0000-0003-0498-1064, Arhzaouy, Khalid, Strucksberg, Karl-Heinz, Cross, Megan ORCID: 0000-0001-7512-7223, Hofmann, Andreas ORCID: 0000-0003-4408-5467, Schroeder, Rolf, Clemen, Christoph S. and Eichinger, Ludwig ORCID: 0000-0003-1594-6117 (2016). Mutant p97 exhibits species-specific changes of its ATPase activity and compromises the UBXD9-mediated monomerisation of p97 hexamers. Eur. J. Cell Biol., 95 (6-7). S. 195 - 208. MUNICH: ELSEVIER GMBH. ISSN 1618-1298

Winter, Lilli ORCID: 0000-0002-6368-1160, Wittig, Ilka, Peeva, Viktoriya, Eggers, Britta ORCID: 0000-0002-6553-4631, Heidler, Juliana, Chevessier, Frederic, Kley, Rudolf A., Barkovits, Katalin, Strecker, Valentina, Berwanger, Carolin, Herrmann, Harald, Marcus, Katrin, Kornblum, Cornelia, Kunz, Wolfram S. ORCID: 0000-0003-1113-3493, Schroeder, Rolf and Clemen, Christoph S. (2016). Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue. Acta Neuropathol., 132 (3). S. 453 - 474. NEW YORK: SPRINGER. ISSN 1432-0533

2015

Clemen, Christoph S., Marko, Marija, Strucksberg, Karl-Heinz, Behrens, Juliane, Wittig, Ilka, Gaertner, Linda, Winter, Lilli ORCID: 0000-0002-6368-1160, Chevessier, Frederic, Matthias, Jan, Tuerk, Matthias, Tangavelou, Karthikeyan, Schuetz, Johanna, Arhzaouy, Khalid, Klopffleisch, Karsten, Hanisch, Franz-Georg, Rottbauer, Wolfgang, Bluemcke, Ingmar, Just, Steffen, Eichinger, Ludwig ORCID: 0000-0003-1594-6117, Hofmann, Andreas ORCID: 0000-0003-4408-5467 and Schroeder, Rolf (2015). VCP and PSMF1: Antagonistic regulators of proteasome activity. Biochem. Biophys. Res. Commun., 463 (4). S. 1210 - 1218. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE. ISSN 1090-2104

Clemen, Christoph S., Stoeckigt, Florian, Strucksberg, Karl-Heinz, Chevessier, Frederic, Winter, Lilli ORCID: 0000-0002-6368-1160, Schuetz, Johanna, Bauer, Ralf, Thorweihe, Jose-Manuel, Wenzel, Daniela ORCID: 0000-0003-1100-6363, Schloetzer-Schrehardt, Ursula, Rasche, Volker, Krsmanovic, Pavle ORCID: 0000-0003-1142-4282, Katus, Hugo A., Rottbauer, Wolfgang, Just, Steffen, Mueller, Oliver J., Friedrich, Oliver ORCID: 0000-0003-2238-2049, Meyer, Rainer, Herrmann, Harald, Schrickel, Jan Wilko and Schroeder, Rolf (2015). The toxic effect of R350P mutant desmin in striated muscle of man and mouse. Acta Neuropathol., 129 (2). S. 297 - 316. NEW YORK: SPRINGER. ISSN 1432-0533

2012

Arhzaouy, Khalid, Strucksberg, Karl-Heinz, Tung, Sze Man, Tangavelou, Karthikeyan, Stumpf, Maria, Faix, Jan, Schroeder, Rolf, Clemen, Christoph S. and Eichinger, Ludwig ORCID: 0000-0003-1594-6117 (2012). Heteromeric p97/p97(R155C) Complexes Induce Dominant Negative Changes in Wild- Type and Autophagy 9-Deficient Dictyostelium strains. PLoS One, 7 (10). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Clemen, Christoph S., Eichinger, Ludwig ORCID: 0000-0003-1594-6117 and Schroeder, Rolf (2012). Reply: Hereditary spastic paraplegia caused by a mutation in the VCP gene VCP: A Jack of all trades in neuro- and myodegeneration? Brain, 135. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

2010

Clemen, Christoph S., Tangavelou, Karthikeyan, Strucksberg, Karl-Heinz, Just, Steffen, Gaertner, Linda, Regus-Leidig, Hanna, Stumpf, Maria, Reimann, Jens, Coras, Roland, Morgan, Reginald O. ORCID: 0000-0002-2059-792X, Fernandez, Maria-Pilar, Hofmann, Andreas ORCID: 0000-0003-4408-5467, Mueller, Stefan, Schoser, Benedikt ORCID: 0000-0002-2757-8131, Hanisch, Franz-Georg, Rottbauer, Wolfgang, Bluemcke, Ingmar, von Hoersten, Stephan, Eichinger, Ludwig ORCID: 0000-0003-1594-6117 and Schroeder, Rolf (2010). Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. Brain, 133. S. 2920 - 2942. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156