Ontology highlight
ABSTRACT:
SUBMITTER: Prosseda PP
PROVIDER: S-EPMC5665444 | biostudies-literature | 2017 Oct
REPOSITORIES: biostudies-literature
Prosseda Philipp P PP Luo Na N Wang Biao B Alvarado Jorge A JA Hu Yang Y Sun Yang Y
Journal of cell science 20170904 20
Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P<sub>2</sub>, cause Lowe syndrome. Previously we showed that OCRL localizes to the primary cilium, which has a distinct membrane phospholipid composition, but disruption of phosphoinositides in the ciliary membrane is poorly understood. Here, we d ...[more]