Universität zu Köln

Journal Article

Goncalves, Ines do Carmo G., Brecht, Johanna, Thelen, Maximilian P., Rehorst, Wiebke A., Peters, Miriam, Lee, Hyun Ju, Motameny, Susanne, Torres-Benito, Laura, Ebrahimi-Fakhari, Darius ORCID: 0000-0002-0026-4714, Kononenko, Natalia L., Altmueller, Janine, Vilchez, David ORCID: 0000-0002-0801-0743, Sahin, Mustafa, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Kye, Min Jeong ORCID: 0000-0002-1323-7256 (2018). Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Goncalves, Ines do Carmo G., Brecht, Johanna, Thelen, Maximilian P., Rehorst, Wiebke A., Peters, Miriam, Lee, Hyun Ju, Motameny, Susanne, Torres-Benito, Laura, Ebrahimi-Fakhari, Darius ORCID: 0000-0002-0026-4714, Kononenko, Natalia L., Altmueller, Janine, Vilchez, David, Sahin, Mustafa, Wirth, Brunhilde and Kye, Min Jeong (2018). Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy (vol 8, 7907, 2018). Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Heesen, Ludwig, Peitz, Michael, Torres-Benito, Laura, Hoelker, Irmgard, Hupperich, Kristina, Dobrindt, Kristina, Jungverdorben, Johannes, Ritzenhofen, Swetlana, Weykopf, Beatrice, Eckert, Daniela, Hosseini-Barkooie, Seyyed Mohsen, Storbeck, Markus, Fusaki, Noemi, Lonigro, Renata, Heller, Raoul, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Bruestle, Oliver and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2016). Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals. Cell. Mol. Life Sci., 73 (10). S. 2089 - 2105. BASEL: SPRINGER BASEL AG. ISSN 1420-9071

Hosseinibarkooie, Seyyedmohsen, Peters, Miriam, Torres-Benito, Laura, Rastetter, Raphael H., Hupperich, Kristina, Hoffmann, Andrea, Mendoza-Ferreira, Natalia, Kaczmarek, Anna, Janzen, Eva, Milbradt, Janine, Lamkemeyer, Tobias, Rigo, Frank, Bennett, C. Frank, Guschlbauer, Christoph, Bueschges, Ansgar, Hammerschmidt, Matthias, Riessland, Markus ORCID: 0000-0003-2592-5045, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Clemen, Christoph S. and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2016). The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. Am. J. Hum. Genet., 99 (3). S. 647 - 666. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Janzen, Eva, Mendoza-Ferreira, Natalia, Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja, Hupperich, Kristina, Tschanz, Theresa, Grysko, Vanessa, Riessland, Markus ORCID: 0000-0003-2592-5045, Hammerschmidt, Matthias, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Torres-Benito, Laura and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. Brain, 141. S. 2343 - 2362. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Mendoza-Ferreira, Natalia, Coutelier, Marie ORCID: 0000-0002-0261-7210, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Loehr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus ORCID: 0000-0003-2592-5045, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni ORCID: 0000-0001-9368-8657 and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurol.-Genet., 4 (1). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

Riessland, Markus ORCID: 0000-0003-2592-5045, Kaczmarek, Anna, Schneider, Svenja, Swoboda, Kathryn J., Loehr, Heiko, Bradler, Cathleen, Grysko, Vanessa, Dimitriadi, Maria, Hosseinibarkooie, Seyyedmohsen, Torres-Benito, Laura, Peters, Miriam, Upadhyay, Aaradhita, Biglari, Nasim, Kroeber, Sandra, Hoelker, Irmgard, Garbes, Lutz, Gilissen, Christian ORCID: 0000-0003-1693-9699, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Nuernberg, Gudrun, Nuernberg, Peter, Walter, Michael, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Hart, Anne C., Hammerschmidt, Matthias, Kloppenburg, Peter and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. Am. J. Hum. Genet., 100 (2). S. 297 - 316. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Torres-Benito, Laura, Schneider, Svenja, Rombo, Roman, Ling, Karen K., Grysko, Vanessa, Upadhyay, Aaradhita, Kononenko, Natalia L., Rigo, Frank, Bennett, C. Frank and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice. Am. J. Hum. Genet., 105 (1). S. 221 - 231. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Upadhyay, Aaradhita, Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja, Kaczmarek, Anna, Torres-Benito, Laura, Mendoza-Ferreira, Natalia, Overhoff, Melina, Rombo, Roman, Grysko, Vanessa, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Kononenko, Natalia L. and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological. Front. Molec. Neurosci., 12. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1662-5099