Enhanced optineurin E50K–TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma
نویسندگان
چکیده
منابع مشابه
Different optineurin mutation pattern in primary open-angle glaucoma.
PURPOSE The optineurin gene (OPTN) is the second gene besides MYOC in which mutations have been identified to be associated with primary open-angle glaucoma (POAG). In this study, sequence alterations in the OPTN gene associated with POAG in Chinese subjects were investigated. METHODS All the coding exons of OPTN were screened, including the intron-exon boundaries, for sequence alterations in...
متن کاملSNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients.
PURPOSE To evaluate the association of myocilin (MYOC), optineurin (OPTN), and apolipoprotein E (APOE) genes and their interactions in primary open angle glaucoma (POAG). METHODS A cohort of 400 unrelated POAG patients (294 high tension glaucoma, HTG, and 106 normal tension glaucoma, NTG) and 281 unrelated control subjects were recruited. All coding exons and splicing junctions in MYOC and OP...
متن کاملPrimary open-angle glaucoma
Primary open-angle glaucoma (POAG) is an idiopathic disorder in which the resistance to outflow through the trabecular meshwork gradually increases and the intraocular pressure (IOP) rises, causing irreversible damage to the optic nerve POAG is the second most common cause of vision loss in the U.S. Usually asymptomatic until advanced visual field loss has occurred; less than 50% of those...
متن کاملFamilial aggregation of primary open angle glaucoma in Shanghai, China
PURPOSE To identify familial aggregation of primary open angle glaucoma (POAG) in first-degree relatives in Shanghai, China. METHODS This was a prospective case-control study. First-degree relatives of 113 POAG patients and 119 normal controls underwent a standardized ophthalmic examination. Each participant was diagnosed as normal, glaucoma suspect or glaucoma. The prevalence of glaucoma and...
متن کاملDefining the pathogenicity of optineurin in juvenile open-angle glaucoma.
PURPOSE Juvenile open-angle glaucoma (JOAG) differs from primary open-angle glaucoma in that it is usually a more severe phenotype and has an earlier age of onset. Optineurin was recently associated with a variant of POAG that is characterized by intraocular pressure within normal limits: normal-tension glaucoma. The present study tested whether OPTN sequence changes play a role in early-onset ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2013
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddt210