The main focus of research is the evaluation of therapeutic strategies for hereditary eye diseases. The following major areas are:
- Read-through of nonsense mutations with translational read-through inducing drugs (screening, preclinical evaluation)
- Gene addition by adeno-associated virus (AAV)
- Gene targeting by homologous recombination using endonucleases such as ZFN, TALENs and CRISPR/Cas9
- Expression analysis of retinal proteins in human and non-human primates
- Functional characterization of proteins related ciliopathies
Key techniques: cell culture, immunohistochemistry (light & electron microscopy), drug screening, interaction assays
Research system/organism: Mus musculus, Sus scrofa, human primary cells
- Nagel-Wolfrum K, Möller F, Penner I,, Baasov T, Wolfrum U (2016) Targeting nonsense mutations in diseases with translational read-through-inducing drugs (TRIDs). BioDrugs 30:49-74 (leading article)
- Schwarz N, Carr AJ, Lane A, Moeller F, Chen LL, Aguilà M, Muthiah MN, Davidson AE, Kanuga N, Wolfrum U, Nagel-Wolfrum K, Cruz L, Coffey PJ, Cheetham ME, Hardcastle AJ (2015) Translational read-through of the Retinitis Pigmentosa 2 (RP2) Arg120stop mutation in patient iPSC-derived retinal pigment epithelial cells. Hum Mol Genet. 24:972-86. PMID: 25292197
- Goldmann T, Overlack N, van Wyk M, Möller F, Nudelman I, Belakhov V, Baasov T, Wolfrum U, Nagel-Wolfrum K (2012) A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation. EMBO Mol Med 4:1186-99.
- Overlack N, Goldmann T, Wolfrum U, and Nagel-Wolfrum K (2012) Gene repair of an Usher syndrome causing mutation by zinc finger nucleases mediated homologous recombination. Invest Ophthalmol Visual Sci 53:4140-6.
- Goldmann T, Overlack N, Wolfrum U, Nagel-Wolfrum K (2011) PTC124-mediated translational read-through of a nonsense mutation causing Usher type 1C. Hum Gene Ther 22:537-47.