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 em 2012

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 no Mol Ther Methods Clin Dev (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 no Mol Ther Methods Clin Dev (2016)

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 no Hum Mutat (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 no Cell Mol Life Sci (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 no Hum Mol Genet (2015)

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

Por Chakarova, Christina F., Khanna, Hemant, Shah, Amna Z., Patil, Suresh B., Sedmak, Tina, Murga-Zamalloa, Carlos A., Papaioannou, Myrto G., Nagel-Wolfrum, Kerstin, Lopez, Irma, Munro, Peter, Cheetham, Michael, Koenekoop, Robert K., Rios, Rosa M., Matter, Karl, Wolfrum, Uwe, Swaroop, Anand, Bhattacharya, Shomi S.
Publicado em 2011

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 no PLoS One (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 no Mol Genet Genomic Med (2017)