Specific OCRL1 patient mutations differentially impact Lowe Syndrome cellular phenotypes
S. Ramadesikan, L. Skiba, J. Lee, K. Madhivanan, D. Sarkar, A. De La Fuente, C. B. Hanna, T. Hazbun, D. Kihara, R. C. Aguilar
This study shows how different OCRL1 mutations affect Lowe Syndrome cellular phenotypes and introduces a conformational disease mechanism.
bioRxiv · Aug 4, 2020Cell Biology