Article
<b>M98K-OPTN induces transferrin receptor degradation and RAB12</b>-<b>mediated autophagic death in retinal ganglion cells</b>
28 Jan 2013
Abstract excerpt
Mutations in the autophagy receptor OPTN/optineurin are associated with the pathogenesis of glaucoma and amyotrophic lateral sclerosis, but the underlying molecular basis is poorly understood. The OPTN variant, M98K has been described as a risk factor for normal tension glaucoma in some ethnic groups. Here, we examined the consequence of the M98K mutation in affecting cellular functions of OPTN. Overexpression of...
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