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Article

Defects in autophagy caused by glaucoma-associated mutations in optineurin.

Experimental eye research - 1 Mar 2016

Sirohi Kapil, Swarup Ghanshyam

Abstract excerpt

Certain mutations in optineurin (gene OPTN) are associated with primary open angle glaucoma. Optineurin is ubiquitously expressed but it shows high level of expression in certain cells and tissues including retinal ganglion cells. It interacts with many proteins, often acting as an adaptor to link two or more proteins. These interactions play a crucial role in mediating various functions of optineurin such as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26302410
DOI: 10.1016/j.exer.2015.08.020

Genes

OPTN
TBK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Defects in autophagy caused by glaucoma-associated mutations in optineurin.PMID 26302410Read ↗

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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 ↗

<b>M98K-OPTN induces transferrin receptor degradation and RAB12</b>-<b>mediated autophagic death in retinal ganglion cells</b>Semantic proximity Read ↗

Optineurin: A Coordinator of Membrane-Associated Cargo Trafficking and Autophagy.Semantic proximity Read ↗

Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma.Semantic proximity Read ↗

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

Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins.Semantic proximity Read ↗

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

Optineurin and Its Mutants: Molecules Associated with Some Forms of GlaucomaSemantic proximity Read ↗

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