C4‐dicarboxylates and l‐aspartate utilization by Escherichia coli K‐12 in the mouse intestine: l‐aspartate as a major substrate for fumarate respiration and as a nitrogen source... von Schubert, Christopher, Winter, Maria, Ebert‐Jung, Andrea, Kierszniowska, Sylwia, Nagel‐Wolfrum, Kerstin, Schramm, Thorben, Link, Hannes, Winter, Sebastian, Unden, Gottfried

Volltext

A comparative evaluation of NB30, NB54 and PTC124 in translational read‐through efficacy for treatment of an USH1C nonsense mutation von Goldmann, Tobias, Overlack, Nora, Möller, Fabian, Belakhov, Valery, van Wyk, Michiel, Baasov, Timor, Wolfrum, Uwe, Nagel‐Wolfrum, Kerstin

Volltext

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

Volltext

Human brain organoids assemble functionally integrated bilateral optic vesicles von Gabriel, Elke, Albanna, Walid, Pasquini, Giovanni, Ramani, Anand, Josipovic, Natasa, Mariappan, Aruljothi, Schinzel, Friedrich, Karch, Celeste M., Bao, Guobin, Gottardo, Marco, Suren, Ata Alp, Hescheler, Jürgen, Nagel-Wolfrum, Kerstin, Persico, Veronica, Rizzoli, Silvio O., Altmüller, Janine, Riparbelli, Maria Giovanna, Callaini, Giuliano, Goureau, Olivier, Papantonis, Argyris, Busskamp, Volker, Schneider, Toni, Gopalakrishnan, Jay

Volltext

Crystallins Play a Crucial Role in Glaucoma and Promote Neuronal Cell Survival in an In Vitro Model Through Modulating Müller Cell Secretion von Liu, Hanhan, Bell, Katharina, Herrmann, Anja, Arnhold, Stefan, Mercieca, Karl, Anders, Fabian, Nagel-Wolfrum, Kerstin, Thanos, Solon, Prokosch, Verena

Volltext

Translational Read-Through Therapy of RPGR Nonsense Mutations von Vössing, Christine, Owczarek-Lipska, Marta, Nagel-Wolfrum, Kerstin, Reiff, Charlotte, Jüschke, Christoph, Neidhardt, John

Volltext

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... von Beryozkin, Avigail, Samanta, Ananya, Gopalakrishnan, Prakadeeswari, Khateb, Samer, Banin, Eyal, Sharon, Dror, Nagel-Wolfrum, Kerstin

Volltext

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

Volltext

Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa von Schellens, Renske, de Vrieze, Erik, Graave, Pam, Broekman, Sanne, Nagel-Wolfrum, Kerstin, Peters, Theo, Kremer, Hannie, Collin, Rob W. J., van Wijk, Erwin

Volltext

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium von Evans, R. Jane, Schwarz, Nele, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Hardcastle, Alison J., Cheetham, Michael E.

Volltext

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly von Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nürnberg, Gudrun, Stern-Schneider, Gabi, Nürnberg, Peter, Karnati, Srikanth, Swan, Daniel, Fateen, Ekram, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline, Bolz, Hanno J.

Volltext

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

Volltext

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

Volltext

The Adhesion GPCR VLGR1/ADGRV1 Regulates the Ca2+ Homeostasis at Mitochondria-Associated ER Membranes von Krzysko, Jacek, Maciag, Filip, Mertens, Anna, Güler, Baran Enes, Linnert, Joshua, Boldt, Karsten, Ueffing, Marius, Nagel-Wolfrum, Kerstin, Heine, Martin, Wolfrum, Uwe

Volltext

The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling von Schäfer, Jessica, Wenck, Nicole, Janik, Katharina, Linnert, Joshua, Stingl, Katarina, Kohl, Susanne, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe

Volltext

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

Volltext

Mutations in LCA5 , encoding the ciliary protein lebercilin, cause Leber congenital amaurosis von Mohamed, Moin D, Wolfrum, Uwe, Kersten, Ferry F J, Rashid, Yasmin, Arts, Heleen H, van Beersum, Sylvia E C, Ueffing, Marius, Boldt, Karsten, Lopez, Irma, Towns, Katherine V, Woods, C Geoff, McKibbin, Martin, Dharmaraj, Sharola, van Wijk, Erwin, Williams, Grange A, Maumenee, Irene H, Inglehearn, Chris F, Nagel-Wolfrum, Kerstin, Veltman, Joris A, Beer, Monika, Gosens, Ilse, Springell, Kelly, Roepman, Ronald, Ivings, Lenka, Strom, Tim M, Zonneveld, Marijke N, Koenekoop, Robert K, Sedmak, Tina, Jafri, Hussain, van der Zwaag, Bert, Cheetham, Michael E, Cremers, Frans P M, den Hollander, Anneke I

Volltext

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

Volltext

Sequence-specific Peptide Aptamers, Interacting with the Intracellular Domain of the Epidermal Growth Factor Receptor, Interfere with Stat3 Activation and Inhibit the Growth of Tum... von Buerger, Claudia, Nagel-Wolfrum, Kerstin, Kunz, Christian, Wittig, Ilka, Butz, Karin, Hoppe-Seyler, Felix, Groner, Bernd

Volltext

Efficient gene delivery to photoreceptors using AAV2/rh10 and rescue of the Rho(-/-) mouse von Palfi, Arpad, Chadderton, Naomi, O'Reilly, Mary, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe, Bennett, Jean, Humphries, Peter, Kenna, Paul, Millington-Ward, Sophia, Farrar, Jane

Volltext