Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome.
Ke NingEmilie SongBrent E SendayenPhilipp P ProssedaKun-Che ChangAlireza GhaffariehJorge A AlvaradoBiao WangKathryn M HaiderNicolas F BerbariYang HuYang SunPublished in: Molecular genetics & genomic medicine (2020)
The decreased expression of INPP5E specifically in the primary cilium, coupled with disorganized cilia morphology, suggests a novel role of NPHP1 that it is involved in regulating ciliary phosphoinositide composition in the ciliary membrane of renal tubular cells.