A genetic and physiological model of renal dysfunction in Lowe syndrome
R. PADINJAT, N. A. Ramesh, V. Kataria, I. S. Lama, R. S. Thakur, A. Ghosh, S. Sharma, A. Venugopal, A. Vasudevan
This study uses a Drosophila nephrocyte model to show that OCRL loss causes endolysosomal defects and kidney dysfunction, which can be rescued by human OCRL but not by mutant variants.
bioRxiv · Jan 15, 2024 · PreprintCell Biology