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A09 - Regulated cell death and kidney fibrosis as a consequence of mutation of cilia-associated genes

Thomas Benzing

Clinic II internal medicine, University of Cologne
Contact: thomas.benzing(at)uk-koeln.de
For more information visit: Nephrolab Cologne

Bernhard Schermer

Clinic II internal medicine, University of Cologne
Contact: bernhard.schermer(at)uk-koeln.de
For more information visit: Nephrolab Cologne


Nephronophthisis (NPH) is an autosomal recessive disorder caused by mutations in single genes relevant for primary cilia, sensory organelles at the surface of tubular epithelial cells. The disease is characterised by progressive loss of renal tubular. However, the role of cell death and the molecular link to cilia signalling are still elusive. The aim of this project is to study the role of regulated cell death (RCD) in the pathogenesis of NPH and to elucidate the role of cilia and cilia-associated NPH proteins in controlling cell death signalling as well as the crosstalk of surrounding cells with dying kidney epithelial cells.

Recent Publications


Kieckhöfer, E., Slaats, G.G., Ebert, L.K., Albert, M.-C., Dafinger, C., Kashkar, H., Benzing, T. & Schermer, B. (2022) Primary cilia suppress Ripk3-mediated necroptosis. Cell Death Discovery  8, Article number: 477 (2022) https://doi.org/10.1038/s41420-022-01272-2

Kroef, V., Ruegenberg, S., Horn, M., Allmeroth, K., Ebert, L., Bozkus, S., Miethe, S., Elling, U., Schermer, B., Baumann, U., Denzel, M.S, (2022) GFPT2/GFAT2 and AMDHD2 act in tandem to control the hexosamine pathway. eLife 2022;11:e69223 doi: 10.7554/eLife.69223

Project related Publications