Molecular Biology of Retinal Degenerations
A systems biology approach to dissect cilia function and its disruption
Facts & Figures
- Duration: 5 years (06/2010-05/2015)
- Funding Agency: EU-FP7
SYSCILIA is a large scale, collaborative project, funded by the EU’s 7th framework program. It is co-coordinated by us and assembles leading scientists in cilia biology, bioinformatics protein network analysis and systems biology. The ultimate goal of this project is to understand principal ciliary mechanisms in health and disease. The basis of this project is the dissection of the ciliary protein network including the effects of perturbations like ciliopathy-associated protein variants. This data will be subjected to systems biology-based network analysis and mathematical model generation. Based on the prediction generated by these methods, in-vitro and in-vivo validation shall lead to novel hypothesis for ciliopathy treatment. By combining various expertise from different fields SYSCILIA aims to bridge the gap between basic cilia research and clinical application, thereby coming from systems biology to systems medicine and enhancing the future therapeutically possibilities.
- Ronald Roepman, Radboud University Nijmegen Medical Centre, The Netherlands (Coordinator)
- H. Kremer, Radboud University Nijmegen Medical Centre, The Netherlands
- Martijn Huijnen, Radboud University Nijmegen Medical Centre, The Netherlands
- Toby Gibson, European Molecular Biology Laboratory, Germany
- Nicholas Katsanis, Duke University Medical Center, USA
- Gerd Walz, Universitätsklinikum Freiburg, Germany
- Uwe Wolfrum, Johannes Gutenberg Universitaet, Germany
- Brunella Franco, Telethon Institute of Genetics and Medicine, Italy
- Rachel Giles, Universitair Medisch Centrum Utrecht, The Netherlands
- Phil Beales, University College London, UK
- Colin Johnson, The Leeds Institute of Molecular Medicine, UK
- Oliver Blacque, University College Dublin, Ireland
- Marco Pontoglio, Institut National de la Sante et de la Recherche Medicale, France
- Francois Kepes, Centre National de la Recherche Scientifique, France
- Gordana Apic, Cambridge Cell Networks Ltd. , UK
- Rob Russell, Ruprecht-Karls Universitaet Heidelberg, Germany
- Heymut Omran, Westfaelische Wilhelms Universitaet Muenster, Germany
Scientists in Ueffing Lab
- Karsten Boldt
- Andreas Vogt
- Yves Texier
- Yasmin Wissinger
- Boldt, K. et al. Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J Clin Invest 121, 2169-2180, doi:10.1172/JCI45627 (2011).
- Boldt, K., van Reeuwijk, J., Gloeckner, C. J., Ueffing, M. & Roepman, R. Tandem affinity purification of ciliopathy-associated protein complexes. Methods in cell biology 91, 143-160, doi:10.1016/S0091-679X(08)91009-8 (2009).
- Coene, K. L. et al. The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. Hum Mol Genet 20, 3592-3605, doi:10.1093/hmg/ddr280 (2011).
- den Hollander, A. I. et al. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet 39, 889-895, doi:10.1038/ng2066 (2007).
- Kinzel, D. et al. Pitchfork regulates primary cilia disassembly and left-right asymmetry. Dev Cell 19, 66-77, doi:10.1016/j.devcel.2010.06.005 (2010).
- Texier, Y., Kinkl, N., Boldt, K. & Ueffing, M. From quantitative protein complex analysis to disease mechanism. Vision Res, doi:10.1016/j.visres.2012.08.016 (2012).