July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Ocular and systemic presentations of phosphoinositide signaling defects
Author Affiliations & Notes
  • Yang Sun
    Department of Ophthalmology, Stanford University, Palo Alto, California, United States
    Palo Alto VA medical center, Palo Alto, California, United States
  • Footnotes
    Commercial Relationships   Yang Sun, None
  • Footnotes
    Support  NIH Grant EY25295, NIH Grant EY22058, VA CX001298, Stanford University Lacob Faculty Scholar in Pediatrics
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 10. doi:
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    • Get Citation

      Yang Sun; Ocular and systemic presentations of phosphoinositide signaling defects. Invest. Ophthalmol. Vis. Sci. 2019;60(9):10.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

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.

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