Article
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant.
BMC cell biology - 19 Jan 2010
Nagabhushana Ananthamurthy, Chalasani Madhavi L, Jain Nishant, Radha Vegesna, Rangaraj Nandini, Balasubramanian Dorairajan, Swarup Ghanshyam
Abstract excerpt
BACKGROUND: Optineurin is a multifunctional protein involved in several functions such as vesicular trafficking from the Golgi to the plasma membrane, NF-kappaB regulation, signal transduction and gene expression. Mutations in optineurin are associated with glaucoma, a neurodegenerative eye disease that causes blindness. Genetic evidence suggests that the E50K (Glu50Lys) is a dominant disease-causing mutation of...
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