The role of endosomal regulators for slit diaphragm formation and maintenance (P06)

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

P6 studies the role of endocytosis for the glomerular filtration barrier. P6 has recently identified mutations of the endosomal regulators GAPVD1 and TBC1D8B as novel monogenic causes of nephrotic syndrome. Linking the slit diaphragm protein Nephrin with the endocytic machinery, the encoded proteins interact with RAB5 and RAB11, respectively. P6 will decipher the mechanistic role of endocytosis in slit diaphragm formation and maintenance using Drosophila nephrocytes and a novel conditional Gapvd1 mouse model to obtain insight into mechanisms of glomerular disease.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1453: Nephrogenetics (NephGen)
• Applicant Institution: Albert-Ludwigs-Universität Freiburg
• Project Head: Privatdozent Dr. Tobias Hermle