Purchase this article with an account.
Yang Sun; Ocular and systemic presentations of phosphoinositide signaling defects. Invest. Ophthalmol. Vis. Sci. 2019;60(9):10.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Presentation Description :
Phosphoinositides (PIs) are lipid signaling molecules involved in wide-ranging cellular functions including vesicular trafficking, membrane dynamics, and primary cilia signaling. Inositol polyphosphate 5-phosphatases are critical enzymes that regulate PI levels in cellular subcompartments. Mutations in the 5-phosphatase gene INPP5E cause ciliopathies such as Joubert and MORM syndrome with retinal degeneration. Mutations in OCRL result in Lowe syndrome which presents with congenital glaucoma and cataracts. Recently INPP5K has been implicated in syndromic forms of congenital cataracts, muscular hypotonia, and mental retardation. The mechanisms of 5-phosphatase signaling in eye diseases will be explored.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.
This PDF is available to Subscribers Only