Identification of TULP3-mutations in patients with cystic kidney disease and related ciliopathies (B04)

• Subject Area: Nephrology
• Term: from 2015 to 2019
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 246781735

Cystic kidney disorders are clinically and genetically heterogeneous and belong to the most frequently occurring genetic diseases. The characterization of ¿cystoproteins¿ as the cause for cystic kidney diseases has significantly contributed to the elucidation of ciliopathies. This group of diseases is related to ciliary dysfunction and almost all entities can manifest renal cysts. Variable expressivity of the phenotype is still largely unexplained and a major challenge for genetic counselling and clinical care. In this project we will characterize the role of TULP3 as a new gene and potential modifier for cystic kidney diseases and other ciliopathies.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1140: Kidney Disease - from Genes to Mechanisms (KIDGEM)
• Applicant Institution: Albert-Ludwigs-Universität Freiburg
• Project Head: Professor Dr. Carsten Bergmann