A09 | Regulated cell death and kidney fibrosis as a consequence of mutation of cilia-associated genes
Prof. Dr. med. Thomas Benzing
Clinic II internal medicine, University of Cologne
Contact: thomas.benzing
uk-koeln.de
For more information visit: Nephrolab Cologne
Prof. Dr. med. Bernhard Schermer
Clinic II internal medicine, University of Cologne
Contact: bernhard.schermeruk-koeln.de
For more information visit: Nephrolab Cologne
Abstract
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
2025
Ebert LK, Schloesser L, Frech LE, Jain M, Dafinger C, Liebau MC, Benzing T, Schermer B, Slaats GG. The nephronophthisis protein GLIS2/NPHP7 is required for the DNA damage response in kidney tubular epithelial cells. Am J Physiol Renal Physiol. 2025 Sep 1;329(3):F335-F346. doi: 10.1152/ajprenal.00076.2025. Epub 2025 Jul 25. PMID: 40713016.
Braun F, Mandel AM, Blomberg L, Wong MN, Chatzinikolaou G, Meyer DH, Reinelt A, Nair V, Akbar-Haase R, McCown PJ, Haas F, Chen H, Rahmatollahi M, Fermin D, Ebbestad R, Slaats GG, Bork T, Schell C, Koehler S, Brinkkoetter PT, Lindenmeyer MT, Cohen CD, Kann M, Unnersjö-Jess D, Bloch W, Sampson MG, Dollé ME, Puelles VG, Kretzler M, Garinis GA, Huber TB, Schermer B, Benzing T, Schumacher B, Kurschat CE. Loss of genome maintenance is linked to mTOR complex 1 signaling and accelerates podocyte damage. JCI Insight. 2025 May 20;10(12):e172370. doi: 10.1172/jci.insight.172370. PMID: 40392611; PMCID: PMC12220965.