Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations

por Samanta, Ananya, Stingl, Katarina, Kohl, Susanne, Ries, Jessica, Linnert, Joshua, Nagel-Wolfrum, Kerstin
Publicado 2019

Translational Read-Through Therapy of RPGR Nonsense Mutations

por Vössing, Christine, Owczarek-Lipska, Marta, Nagel-Wolfrum, Kerstin, Reiff, Charlotte, Jüschke, Christoph, Neidhardt, John
Publicado 2020

Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Terminat...

por Beryozkin, Avigail, Samanta, Ananya, Gopalakrishnan, Prakadeeswari, Khateb, Samer, Banin, Eyal, Sharon, Dror, Nagel-Wolfrum, Kerstin
Publicado 2022

The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling

por Schäfer, Jessica, Wenck, Nicole, Janik, Katharina, Linnert, Joshua, Stingl, Katarina, Kohl, Susanne, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe
Publicado 2023

A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation

por Goldmann, Tobias, Overlack, Nora, Möller, Fabian, Belakhov, Valery, van Wyk, Michiel, Baasov, Timor, Wolfrum, Uwe, Nagel-Wolfrum, Kerstin
Publicado 2012

Crystallins Play a Crucial Role in Glaucoma and Promote Neuronal Cell Survival in an In Vitro Model Through Modulating Müller Cell Secretion

por Liu, Hanhan, Bell, Katharina, Herrmann, Anja, Arnhold, Stefan, Mercieca, Karl, Anders, Fabian, Nagel-Wolfrum, Kerstin, Thanos, Solon, Prokosch, Verena
Publicado 2022

The Adhesion GPCR VLGR1/ADGRV1 Regulates the Ca(2+) Homeostasis at Mitochondria-Associated ER Membranes

por Krzysko, Jacek, Maciag, Filip, Mertens, Anna, Güler, Baran Enes, Linnert, Joshua, Boldt, Karsten, Ueffing, Marius, Nagel-Wolfrum, Kerstin, Heine, Martin, Wolfrum, Uwe
Publicado 2022

Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rho(–/–) mouse

por Palfi, Arpad, Chadderton, Naomi, O’Reilly, Mary, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Bennett, Jean, Humphries, Peter, Kenna, Paul, Millington-Ward, Sophia, Farrar, Jane
Publicado 2015

Corrigendum to “Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rho–/– mouse”

por Palfi, Arpad, Chadderton, Naomi, O’Reilly, Mary, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Bennett, Jean, Humphries, Peter, Kenna, Paul, Millington-Ward, Sophia, Farrar, Jane
Publicado 2016

Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa

por Schellens, Renske, de Vrieze, Erik, Graave, Pam, Broekman, Sanne, Nagel-Wolfrum, Kerstin, Peters, Theo, Kremer, Hannie, Collin, Rob W. J., van Wijk, Erwin
Publicado 2021

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

por Sanjurjo-Soriano, Carla, Jimenez-Medina, Carla, Erkilic, Nejla, Cappellino, Luisina, Lefevre, Arnaud, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Van Wijk, Erwin, Roux, Anne-Françoise, Meunier, Isabelle, Kalatzis, Vasiliki
Publicado 2023

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity

por Borman, Arundhati Dev, Pearce, Laura R, Mackay, Donna S, Nagel-Wolfrum, Kerstin, Davidson, Alice E, Henderson, Robert, Garg, Sumedha, Waseem, Naushin H, Webster, Andrew R, Plagnol, Vincent, Wolfrum, Uwe, Farooqi, I Sadaf, Moore, Anthony T
Publicado 2014

Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype

por Schubert, Timm, Gleiser, Corinna, Heiduschka, Peter, Franz, Christoph, Nagel-Wolfrum, Kerstin, Sahaboglu, Ayse, Weisschuh, Nicole, Eske, Gordon, Rohbock, Karin, Rieger, Norman, Paquet-Durand, François, Wissinger, Bernd, Wolfrum, Uwe, Hirt, Bernhard, Singer, Wibke, Rüttiger, Lukas, Zimmermann, Ulrike, Knipper, Marlies
Publicado 2015

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

por Schwarz, Nele, Carr, Amanda-Jayne, Lane, Amelia, Moeller, Fabian, Chen, Li Li, Aguilà, Mònica, Nommiste, Britta, Muthiah, Manickam N., Kanuga, Naheed, Wolfrum, Uwe, Nagel-Wolfrum, Kerstin, da Cruz, Lyndon, Coffey, Peter J., Cheetham, Michael E., Hardcastle, Alison J.
Publicado 2015

AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy

por Dinculescu, Astra, Stupay, Rachel M., Deng, Wen-Tao, Dyka, Frank M., Min, Seok-Hong, Boye, Sanford L., Chiodo, Vince A., Abrahan, Carolina E., Zhu, Ping, Li, Qiuhong, Strettoi, Enrica, Novelli, Elena, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Smith, W. Clay, Hauswirth, William W.
Publicado 2016

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read...

por Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Müller‐Hofstede, Cornelie, Charbel Issa, Peter, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stöhr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel‐Wolfrum, Kerstin, Khan, Arif O., Bolz, Hanno J.
Publicado 2017

Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy

por Nagel-Wolfrum, Kerstin, Fadl, Benjamin R, Becker, Mirjana M, Wunderlich, Kirsten A, Schäfer, Jessica, Sturm, Daniel, Fritze, Jacques, Gür, Burcu, Kaplan, Lew, Andreani, Tommaso, Goldmann, Tobias, Brooks, Matthew, Starostik, Margaret R, Lokhande, Anagha, Apel, Melissa, Fath, Karl R, Stingl, Katarina, Kohl, Susanne, DeAngelis, Margaret M, Schlötzer-Schrehardt, Ursula, Kim, Ivana K, Owen, Leah A, Vetter, Jan M, Pfeiffer, Norbert, Andrade-Navarro, Miguel A, Grosche, Antje, Swaroop, Anand, Wolfrum, Uwe
Publicado 2022

Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes

por Grotz, Sophia, Schäfer, Jessica, Wunderlich, Kirsten A, Ellederova, Zdenka, Auch, Hannah, Bähr, Andrea, Runa‐Vochozkova, Petra, Fadl, Janet, Arnold, Vanessa, Ardan, Taras, Veith, Miroslav, Santamaria, Gianluca, Dhom, Georg, Hitzl, Wolfgang, Kessler, Barbara, Eckardt, Christian, Klein, Joshua, Brymova, Anna, Linnert, Joshua, Kurome, Mayuko, Zakharchenko, Valeri, Fischer, Andrea, Blutke, Andreas, Döring, Anna, Suchankova, Stepanka, Popelar, Jiri, Rodríguez‐Bocanegra, Eduardo, Dlugaiczyk, Julia, Straka, Hans, May‐Simera, Helen, Wang, Weiwei, Laugwitz, Karl‐Ludwig, Vandenberghe, Luk H, Wolf, Eckhard, Nagel‐Wolfrum, Kerstin, Peters, Tobias, Motlik, Jan, Fischer, M Dominik, Wolfrum, Uwe, Klymiuk, Nikolai
Publicado 2022