GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome

Conclusions
Mutations in GAPVD1 and probably in ANKFY1 are novel monogenic causes of NS. The discovery of these genes implicates RAB5 regulation in the pathogenesis of human NS.

Source: Journal of the American Society of Nephrology : JASN - July 31, 2018 Category: Urology & Nephrology Authors: Hermle, T., Schneider, R., Schapiro, D., Braun, D. A., van der Ven, A. T., Warejko, J. K., Daga, A., Widmeier, E., Nakayama, M., Jobst-Schwan, T., Majmundar, A. J., Ashraf, S., Rao, J., Finn, L. S., Tasic, V., Hernandez, J. D., Bagga, A., Jalalah, S. M., Tags: Basic Research Source Type: research