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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Optineurin

OPTN
This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Als, myocilin, HAD, TDP-43, Ubiquitin
Papers on OPTN
Defects in autophagy caused by glaucoma-associated mutations in optineurin.
Review
New
Swarup et al., Hyderābād, India. In Exp Eye Res, Mar 2016
Certain mutations in optineurin (gene OPTN) are associated with primary open angle glaucoma.
Optineurin: The autophagy connection.
Review
New
Yue et al., Chicago, United States. In Exp Eye Res, Mar 2016
Optineurin is a cytosolic protein encoded by the OPTN gene.
Candidate genes involved in the susceptibility of primary open angle glaucoma.
Review
New
Kaur et al., New Delhi, India. In Gene, Mar 2016
However, the role of only three underlying genes Myocilin (MYOC), Optineurin (OPTN) and WD repeat Domain 36, (WDR36) is well established.
OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.
New
Orr-Urtreger et al., Tel Aviv-Yafo, Israel. In Neurology, Feb 2016
RESULTS: We identified 5 unrelated patients with ALS homozygous for the null 691_692insAG mutation in the optineurin gene (OPTN), accounting for 5.8% of ALS of Moroccan origin and 0.3% of Ashkenazi.
Optineurin deficiency in mice is associated with increased sensitivity to Salmonella but does not affect proinflammatory NF-κB signaling.
New
van Loo et al., Gent, Belgium. In Eur J Immunol, Jan 2016
UNASSIGNED: Optineurin (OPTN) is an evolutionary conserved and ubiquitously expressed ubiquitin-binding protein that has been implicated in glaucoma, Paget bone disease, amyotrophic lateral sclerosis and other neurodegenerative diseases.
Human Leukocyte Antigen Mismatch and Steroid Maintenance in Kidney Transplantation.
New
Sureshkumar et al., Pittsburgh, United States. In Transplant Proc, Dec 2015
METHODS: Adult KTRs between 2001 and 2011 who received antibody induction followed by calcineurin inhibitor (CNI)/mycophenolate mofetil (MMF) maintenance with or without steroid were identified from the Organ Procurement and Transplantation Network/United Network for Organ Sharing (OPTN/UNOS) database.
Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation.
New
Shen et al., Beijing, China. In J Neurol, Dec 2015
We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation.
Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype.
New
Semina et al., Milwaukee, United States. In Mol Genet Genomic Med, Nov 2015
The deletion removed part of the upstream region of optineurin (OPTN) as well as the upstream sequence and two coding exons of coiled-coil domain containing 3 (CCDC3); analysis of the patient's second allele showed normal OPTN and CCDC3 sequences.
Expanding the ubiquitin code through post-translational modification.
Review
New
Dikic et al., Frankfurt am Main, Germany. In Embo Rep, Sep 2015
Similarly, TBK1 phosphorylates the autophagy receptors OPTN and p62 to initiate feedback and feedforward programs for Ub-dependent removal of protein aggregates, mitochondria and pathogens (such as Salmonella and Mycobacterium tuberculosis).
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
New
Impact
Goldstein et al., Durham, United States. In Science, Apr 2015
TBK1 is known to bind to and phosphorylate a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN) and p62 (SQSTM1/sequestosome), both of which have also been implicated in ALS.
Genetics of Paget's disease of bone.
Review
Albagha, Edinburgh, United Kingdom. In Bonekey Rep, 2014
Other susceptibility loci have highlighted new molecular pathways that have not been previously implicated in regulation of bone metabolism such as OPTN, which was recently found to negatively regulate osteoclast differentiation.
Ubiquitylation of autophagy receptor Optineurin by HACE1 activates selective autophagy for tumor suppression.
Impact
Hu et al., Shanghai, China. In Cancer Cell, 2014
Optineurin (OPTN), implicated genetically in glaucoma and amyotrophic lateral sclerosis, was a recently identified autophagy receptor.
Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese.
GeneRIF
Ikegawa et al., Tokyo, Japan. In Neurobiol Aging, 2012
Our results suggest that the OPTN deletion mutation in ALS is not infrequent and the prevalence of the OPTN mutation in Japanese sporadic ALS is considerably high.
Overexpressed mutant optineurin(E50K) induces retinal ganglion cells apoptosis via the mitochondrial pathway.
GeneRIF
Liu et al., Harbin, China. In Mol Biol Rep, 2012
Mutant Optineurin(E50K) acquired the ability to induce cell death through the mitochondrial caspase-dependent cell death pathway.
Plk1-dependent phosphorylation of optineurin provides a negative feedback mechanism for mitotic progression.
GeneRIF
Weil et al., Paris, France. In Mol Cell, 2012
Plk1 phosphorylates Optineurin (Optn) at serine 177 and that this dissociates Optn from the Golgi-localized GTPase Rab8, inducing its translocation into the nucleus.
E3-14.7K is recruited to TNF-receptor 1 and blocks TNF cytolysis independent from interaction with optineurin.
GeneRIF
Schneider-Brachert et al., Regensburg, Germany. In Plos One, 2011
Optineurin despite its substantial role in vesicular trafficking, endocytosis of cell surface receptors and recruitment to the TNFR1 complex is dispensable for the 14.7K-mediated protection against TNF-induced apoptosis.
Absence of altered expression of optineurin in primary open angle glaucoma patients.
GeneRIF
Bosley et al., Riyadh, Saudi Arabia. In Mol Vis, 2011
OPTN expression is not altered in the blood of POAG patients.
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.
Impact
GeneRIF
Ralston et al., Edinburgh, United Kingdom. In Nat Genet, 2010
These studies provide new insights into the pathogenesis of PDB and identify OPTN, CSF1 and TNFRSF11A as candidate genes for disease susceptibility.
Mutations of optineurin in amyotrophic lateral sclerosis.
Impact
GeneRIF
Kawakami et al., Hiroshima, Japan. In Nature, 2010
findings strongly suggest that OPTN is involved in the pathogenesis of amyotrophic lateral sclerosis
Adult-onset primary open-angle glaucoma caused by mutations in optineurin.
Impact
GeneRIF
Sarfarazi et al., Farmington, United States. In Science, 2002
identified as an adult-onset primary open-angle glaucoma gene
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