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Article

Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice

13 Apr 2010

Abstract excerpt

Glaucoma is one of the leading causes of bilateral blindness affecting nearly 8 million people worldwide. Glaucoma is characterized by a progressive loss of retinal ganglion cells (RGCs) and is often associated with elevated intraocular pressure (IOP). However, patients with normal tension glaucoma (NTG), a subtype of primary open-angle glaucoma (POAG), develop the disease without IOP elevation. The molecular...

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PMID: 20388642
DOI: 10.1093/hmg/ddq146

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Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in micePMID 20388642Read ↗

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The E50K optineurin mutation impacts autophagy-mediated degradation of TDP-43 and leads to RGC apoptosis in vivo and in vitroSemantic proximity Read ↗

Enhanced optineurin E50K–TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucomaSemantic proximity Read ↗

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Impairment of protein trafficking upon overexpression and mutation of optineurin.Semantic proximity Read ↗

Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant.Semantic proximity Read ↗

Defects in autophagy caused by glaucoma-associated mutations in optineurin.Semantic proximity Read ↗

Age-related visual impairments and retinal ganglion cells axonal degeneration in a mouse model harboring OPTN (E50K) mutation.Semantic proximity Read ↗

Proteomic Comparison of Aged and OPTN E50K Retina in The Development of Normal Tension GlaucomaSemantic proximity Read ↗

Proteomic Comparison of Aged and OPTN E50K Retina in the Development of Normal Tension GlaucomaSemantic proximity Read ↗

A Glaucoma-Associated Variant of Optineurin, M98K, Activates Tbk1 to Enhance Autophagosome Formation and Retinal Cell Death Dependent on Ser177 Phosphorylation of OptineurinSemantic proximity Read ↗

Visual impairment in an optineurin mouse model of primary open-angle glaucoma.Semantic proximity Read ↗

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