Overview
Common disease mechanisms in hereditary retinal degenerations.
Current Appointments & Affiliations
Professor Emeritus in Ophthalmology
·
2016 - Present
Ophthalmology,
Clinical Science Departments
Recent Publications
Reply to Corbeil et al.: Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration.
Journal Article J Biol Chem · November 8, 2019 Full text Link to item CiteKnocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking.
Journal Article Biochim Biophys Acta Mol Basis Dis · October 1, 2019 Leber congenital amaurosis (LCA) is the most serious form of inherited retinal dystrophy that leads to blindness or severe visual impairment within a few months after birth. Approximately 1-2% of the reported cases are caused by mutations in the LCA5 gene. ... Full text Link to item CiteDeletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration.
Journal Article J Biol Chem · September 20, 2019 Mutations in human prominin 1 (PROM1), encoding a transmembrane glycoprotein localized mainly to plasma membrane protrusions, have been reported to cause retinitis pigmentosa, macular degeneration, and cone-rod dystrophy. Although the structural role of PR ... Full text Link to item CiteRecent Grants
STORE-OPERATED CALCIUM ENTRY IN RETINAL GANGLION CELLS
ResearchPrincipal Investigator · Awarded by National Institutes of Health · 2004 - 2009In Silico Analysis of Ocular Genes and Proteins
ResearchMentor · Awarded by National Institutes of Health · 2003 - 2006Same
ResearchPrincipal Investigator · Awarded by National Institutes of Health · 1997 - 2002View All Grants
Education, Training & Certifications
Rockefeller University ·
1977
Ph.D.