Optineurin
The OPTN gene encodes optineurin that plays a role in glaucoma pathogenesis. Mutations cause autsomal open angle glaucoma 1E.
Genetests:
Related Diseases:
References:
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Li X et al. (2008) A tumor necrosis factor-alpha-mediated pathway promoting autosomal dominant polycystic kidney disease.
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Lazarou M et al. (2015) The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy.
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Pottier C et al. (2015) Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
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Vaibhava V et al. (2012) Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.
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Deng HX et al. (2011) Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations.
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Wild P et al. (2011) Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth.
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Maruyama H et al. (2010) Mutations of optineurin in amyotrophic lateral sclerosis.
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Chi ZL et al. (2010) Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.
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Morton S et al. (2008) Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma.
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Park BC et al. (2007) Interaction between two glaucoma genes, optineurin and myocilin.
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Tang S et al. (2003) The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene.
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Vittitow J et al. (2002) Expression of optineurin, a glaucoma-linked gene, is influenced by elevated intraocular pressure.
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Hattula K et al. () FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis.
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Schwamborn K et al. (2000) Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway.
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Moreland RJ et al. (2000) Identification of a transcription factor IIIA-interacting protein.
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Faber PW et al. (1998) Huntingtin interacts with a family of WW domain proteins.
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Li Y et al. (1998) Interaction of an adenovirus E3 14.7-kilodalton protein with a novel tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains.
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Chalasani ML et al. (2007) A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.
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Rezaie T et al. (2002) Adult-onset primary open-angle glaucoma caused by mutations in optineurin.
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Sarfarazi M et al. (1998) Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region.
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Funayama T et al. (2004) Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.
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Orphanet article
Orphanet ID 124021
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NCBI article
NCBI 10133
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OMIM.ORG article
Omim 602432
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Wikipedia article
Wikipedia EN (Optineurin)
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Update: Aug. 14, 2020