Project Summary
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.
