R51Q SNX10 induces osteopetrosis by promoting uncontrolled fusion of monocytes to form giant, non-functional osteoclasts
M. Barnea, M. Stein, S. Winograd-Katz, M. Shalev, E. Arman, O. Brenner, F. Thalji, M. Kanaan, H. Elinav, P. Stepensky, B. Geiger, J. Tuckermann, A. Elson
This study identifies R51Q SNX10 mutation as a cause of osteopetrosis by promoting abnormal monocyte fusion into non-functional giant osteoclasts.
bioRxiv · Dec 24, 2018Cell Biology