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Article

Altered Functions and Interactions of Glaucoma-Associated Mutants of Optineurin.

Frontiers in immunology - 1 Jan 2018

Swarup Ghanshyam, Sayyad Zuberwasim

Abstract excerpt

Optineurin (OPTN) is an adaptor protein that is involved in mediating a variety of cellular processes such as signaling, vesicle trafficking, and autophagy. Certain mutations in OPTN (gene OPTN) are associated with primary open angle glaucoma, a leading cause of irreversible blindness, and amyotrophic lateral sclerosis, a fatal motor neuron disease. Glaucoma-associated mutations of OPTN are mostly missense...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29951055
DOI: 10.3389/fimmu.2018.01287
PMCID: PMC6008547

Genes

OPTN
TBK1

Variants

Provenance

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Altered Functions and Interactions of Glaucoma-Associated Mutants of Optineurin.PMID 29951055Read ↗

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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 ↗

Significance of optineurin mutations in glaucoma and other diseases.Semantic proximity Read ↗

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

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

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

Cellular Functions of Optineurin in Health and Disease.Semantic proximity Read ↗

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

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

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

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

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