Article
A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.
Investigative ophthalmology & visual science - 1 Apr 2007
Chalasani Madhavi Latha, Radha Vegesna, Gupta Vijay, Agarwal Neeraj, Balasubramanian Dorairajan, Swarup Ghanshyam
Abstract excerpt
PURPOSE: Mutations in the coding region of the OPTN gene are associated with certain glaucomas. Although the function of the optineurin protein is yet to be elucidated, the most common mutation, E50K, is associated with a severe phenotype. This study explores some functional features of optineurin and its mutants. METHODS: Plasmids expressing normal or wild-type (WT) and E50K, R545Q, H26D, and H486R mutant...
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