Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.D474N
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OPTN

NM_001008212.2:p.D474N

Associated Papers

Phase separation of OPTN initiates mitophagy to orchestrate craniofacial bone mineralization.

Liu H et al.

Autophagy, 2026

Glaucoma-associated Optineurin mutations increase transcellular degradation of mitochondria in a vertebrate optic nerve.

Jeong Y et al.

Elife, 2025

Phosphorylation of Optineurin by protein kinase D regulates Parkin-dependent mitophagy.

Weil R et al.

Iscience, 2024

Prospects for gene replacement therapies in amyotrophic lateral sclerosis.

Giovannelli I et al.

Nature Reviews. Neurology, 2023

Zebrafish optineurin: genomic organization and transcription regulation.

Silva IAL et al.

Genome, 2022

Optineurin Deficiency and Insufficiency Lead to Higher Microglial TDP-43 Protein Levels.

Prtenjaca N et al.

International Journal of Molecular Sciences, 2022

Emerging views of OPTN (optineurin) function in the autophagic process associated with disease.

Qiu Y et al.

Autophagy, 2022

Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.

Bonifacino T et al.

International Journal of Molecular Sciences, 2021

Quantitative proteomics reveals the selectivity of ubiquitin-binding autophagy receptors in the turnover of damaged lysosomes by lysophagy.

Eapen VV et al.

Elife, 2021

Integrated proteogenetic analysis reveals the landscape of a mitochondrial-autophagosome synapse during PARK2-dependent mitophagy.

Heo JM et al.

Science Advances, 2019

Structural insights into the ubiquitin recognition by OPTN (optineurin) and its regulation by TBK1-mediated phosphorylation.

Li F et al.

Autophagy, 2018

Optineurin: A Coordinator of Membrane-Associated Cargo Trafficking and Autophagy.

Ryan TA et al.

Frontiers in Immunology, 2018

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

Swarup G et al.

Frontiers in Immunology, 2018

Is amyotrophic lateral sclerosis/frontotemporal dementia an autophagy disease?

Deng Z et al.

Molecular Neurodegeneration, 2017

Significance of optineurin mutations in glaucoma and other diseases.

Minegishi Y et al.

Progress in Retinal and Eye Research, 2016

Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis.

Nakazawa S et al.

Nature Communications, 2016

Optineurin: The autophagy connection.

Ying H et al.

Experimental Eye Research, 2016

Defects in autophagy caused by glaucoma-associated mutations in optineurin.

Sirohi K et al.

Experimental Eye Research, 2016

The PINK1-PARKIN Mitochondrial Ubiquitylation Pathway Drives a Program of OPTN/NDP52 Recruitment and TBK1 Activation to Promote Mitophagy.

Heo JM et al.

Molecular Cell, 2015

The Autophagy Receptor TAX1BP1 and the Molecular Motor Myosin VI Are Required for Clearance of Salmonella Typhimurium by Autophagy.

Tumbarello DA et al.

Plos Pathogens, 2015

Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative mechanism.

Shen WC et al.

Autophagy, 2015

Functional analysis of optineurin and some of its disease-associated mutants.

Bansal M et al.

Iubmb Life, 2015

A Glaucoma-Associated Variant of Optineurin, M98K, Activates Tbk1 to Enhance Autophagosome Formation and Retinal Cell Death Dependent on Ser177 Phosphorylation of Optineurin.

Sirohi K et al.

Plos One, 2015

Effects of mutations and deletions in the human optineurin gene.

Turturro S et al.

Springerplus, 2014

E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy.

Chalasani ML et al.

Plos One, 2014

Oligomerization of optineurin and its oxidative stress- or E50K mutation-driven covalent cross-linking: possible relationship with glaucoma pathology.

Gao J et al.

Plos One, 2014

M98K-OPTN induces transferrin receptor degradation and RAB12-mediated autophagic death in retinal ganglion cells.

Sirohi K et al.

Autophagy, 2013

Plk1-dependent phosphorylation of optineurin provides a negative feedback mechanism for mitotic progression.

Kachaner D et al.

Molecular Cell, 2012

Cellular and molecular biology of optineurin.

Ying H et al.

International Review of Cell and Molecular Biology, 2012

Polyubiquitin binding to optineurin is required for optimal activation of TANK-binding kinase 1 and production of interferon β.

Gleason CE et al.

The Journal of Biological Chemistry, 2011

Optineurin, a multifunctional protein involved in glaucoma, amyotrophic lateral sclerosis and antiviral signalling.

Swarup G et al.

Journal of Biosciences, 2010

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

Nagabhushana A et al.

Bmc Cell Biology, 2010

Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma.

Morton S et al.

Febs Letters, 2008

Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP.

Zhu G et al.

Current Biology : Cb, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."