Elucidating the function of NPHP gene products and compensatory mechanisms in nephronophthisis and related ciliopathies (P03)

• Subject Area: Developmental Biology ; Nephrology
• Term: since 2021
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 431984000

P3 will exploit the complementary nature of the developing zebrafish and Xenopus to deepen our understanding of nephronophthisis (NPH), a group of ciliopathies arising from mutations in the NPH genes. A third in vivo vertebrate model, kidney-specific Tra2b-KO mice, will be added to dissect the intricate genetic and molecular mechanisms underlying defective or mis-spliced NPH gene products causative of ciliopathies. Based on these models, the project will focus on a differentiation of disease-causing mutations from those that can be compensated for genetically or by alternative splicing, and characterize effects on NPHP-module composition and cilia function.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1453: Nephrogenetics (NephGen)
• Applicant Institution: Albert-Ludwigs-Universität Freiburg
• Project Heads: Dr. Peter Walentek, since 1/2025; Professor Dr. Gerd Walz, until 12/2024; Privatdozent Dr. Toma Antonov Yakulov