|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
BEFREE |
In this study, we investigated the involvement of the ubiquitin-proteasome system (UPS) and the autophagy-lysosome pathway, two major intracellular protein quality control systems, in the regulation of wild-type (WT) OPTN, ALS-linked mutant E478G OPTN and POAG-linked mutant E50K OPTN.
|
28334804 |
2017 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
BEFREE |
These results showed that lncRNAs were differentially expressed in the retinas between OPTN (E50K) transgenic and wild‑type mice, and this may be important in the pathogenesis of POAG caused by the OPTN (E50K) mutation.
|
29067446 |
2017 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
BEFREE |
The E50K optineurin transgenic mouse described here exhibited clinical features of POAG and may be useful for mechanistic dissection of POAG and therapeutic development.
|
25818176 |
2015 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
UNIPROT |
E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy.
|
24752605 |
2014 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
BEFREE |
Here, we delineated the intracellular dynamics of the endogenous E50K mutant protein for the first time and demonstrated how this mutation causes OPTN insolubility, in association with TBK1, to evoke POAG.
|
23669351 |
2013 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
UNIPROT |
The optineurin (OPTN) E50K mutation was first identified in familial primary open-angle glaucoma (POAG), the onset of which is not associated with intraocular pressure (IOP) elevation, and is classified as normal-tension glaucoma (NTG).
|
23669351 |
2013 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.
|
22854040 |
2012 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant.
|
20085643 |
2010 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
BEFREE |
The M98K and 691_692insAG presented with low frequencies in POAG patients (1.01% and 2.02%, respectively) and controls (2.00% and 2.00%, respectively).The E50K substitution was not observed.
|
19172505 |
2009 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
BEFREE |
The OPTN[E50K] mutant associated with Primary Open Angle Glaucoma (POAG) displayed strikingly enhanced binding to TBK1, suggesting that this interaction may contribute to familial POAG caused by this mutation.
|
18307994 |
2008 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
UNIPROT |
A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.
|
17389490 |
2007 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.
|
15326130 |
2004 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.
|
15226658 |
2004 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.
|
15557444 |
2004 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.
|
14597044 |
2003 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Different optineurin mutation pattern in primary open-angle glaucoma.
|
12939304 |
2003 |
|
Glaucoma, Primary Open Angle
|
|
0.760 |
GeneticVariation
|
UNIPROT |
Adult-onset primary open-angle glaucoma caused by mutations in optineurin.
|
11834836 |
2002 |
|
GLAUCOMA 1, OPEN ANGLE, E
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Low Tension Glaucoma
|
|
0.070 |
GeneticVariation
|
BEFREE |
Retinal ganglion cells (RGCs) were created from induced pluripotent stem cells derived from a healthy individual (wild-type [WT]-iPSCs) and from a patient with NTG due to OPTNE50K (E50K-iPSCs) mutation.
|
29847634 |
2018 |
|
Low Tension Glaucoma
|
|
0.070 |
GeneticVariation
|
BEFREE |
This phenomenon was consistent with the results seen in neurons derived from induced pluripotent stem cells (iPSCs) from E50K mutation-carrying NTG patients.
|
23669351 |
2013 |
|
Low Tension Glaucoma
|
|
0.070 |
GeneticVariation
|
BEFREE |
The E50K sequence variant was identified in one individual from Chile with normal tension glaucoma, and the 691_692insAG variant was found in one Ashkenazi Jewish individual from Russia.
|
17293779 |
2007 |
|
Low Tension Glaucoma
|
|
0.070 |
GeneticVariation
|
BEFREE |
Mutations in OPTN such as Glu50-->Lys (E50K) have been reported in patients, particularly those with normal pressure glaucoma.
|
17148662 |
2006 |
|
Low Tension Glaucoma
|
|
0.070 |
GeneticVariation
|
BEFREE |
The E50K mutation seems to be associated with a severe form of LTG, and although rare, the identification of this sequence variant in patients at risk may help direct appropriate therapy.
|
16988596 |
2006 |
|
Low Tension Glaucoma
|
|
0.070 |
GeneticVariation
|
BEFREE |
In this study, subjects with glaucoma who had the OPTN E50K mutation were found to have NTG that appeared to be more severe than that in a control group of subjects with NTG without this mutation.
|
16043855 |
2005 |
|
Low Tension Glaucoma
|
|
0.070 |
GeneticVariation
|
BEFREE |
This study provides some additional evidence for the association of the Glu50Lys OPTN sequence variation with familial normal tension glaucoma.
|
14597044 |
2003 |