Associated Papers
OPTN protects retinal ganglion cells and ameliorates neuroinflammation in optic neuropathies.
Wang Q et al.
Communications Biology, 2025
Glaucoma-associated Optineurin mutations increase transcellular degradation of mitochondria in a vertebrate optic nerve.
Jeong Y et al.
Elife, 2025
Paucity of optineurin gene variants in Indian juvenile open-angle glaucoma patients.
Yadav M et al.
Indian Journal of Ophthalmology, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Association of Gene Polymorphisms with Normal Tension Glaucoma: A Systematic Review and Meta-Analysis.
Pan L et al.
Genes, 2024
Rodent genetically modified models of glaucoma.
Loo Y et al.
Molecular Aspects of Medicine, 2024
[Optineurin and mitochondrial dysfunction in neurodegeneration].
D'Urso B et al.
Medecine Sciences : M/s, 2024
Ubiquitin proteasome system and glaucoma: A survey of genetics and molecular biology studies supporting a link with pathogenic and therapeutic relevance.
Pandino I et al.
Molecular Aspects of Medicine, 2023
Molecular genetics of primary open-angle glaucoma.
Yadav M et al.
Indian Journal of Ophthalmology, 2023
Zebrafish optineurin: genomic organization and transcription regulation.
Silva IAL et al.
Genome, 2022
Neuroinflammatory Mechanisms of Mitochondrial Dysfunction and Neurodegeneration in Glaucoma.
Duarte JN
Journal of Ophthalmology, 2021
Distribution of disease-causing germline mutations in coiled-coils implies an important role of their N-terminal region.
Kalman ZE et al.
Scientific Reports, 2020
Critical role of mitochondrial ubiquitination and the OPTN-ATG9A axis in mitophagy.
Yamano K et al.
The Journal of Cell Biology, 2020
The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.
Rozpędek-Kamińska W et al.
International Journal of Molecular Sciences, 2020
Glaucoma-Associated Mutations in the Optineurin Gene Have Limited Impact on Parkin-Dependent Mitophagy.
Chernyshova K et al.
Investigative Ophthalmology & Visual Science, 2019
The role of protein complexes in human genetic disease.
Bergendahl LT et al.
Protein Science : a Publication of the Protein Society, 2019
Structural bases of the assembly, recognition and disassembly of linear ubiquitin chain.
Liu J et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2018
Structural insights into the ubiquitin recognition by OPTN (optineurin) and its regulation by TBK1-mediated phosphorylation.
Li F et al.
Autophagy, 2018
Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma.
Toth RP et al.
Frontiers in Immunology, 2018
Altered Functions and Interactions of Glaucoma-Associated Mutants of Optineurin.
Swarup G et al.
Frontiers in Immunology, 2018
Role of Optineurin in the Mitochondrial Dysfunction: Potential Implications in Neurodegenerative Diseases and Cancer.
Weil R et al.
Frontiers in Immunology, 2018
Significance of optineurin mutations in glaucoma and other diseases.
Minegishi Y et al.
Progress in Retinal and Eye Research, 2016
Decreased expression of miR‑9 due to E50K OPTN mutation causes disruption of the expression of BDNF leading to RGC‑5 cell apoptosis.
Jiang B et al.
Molecular Medicine Reports, 2016
Cellular Functions of Optineurin in Health and Disease.
Slowicka K et al.
Trends in Immunology, 2016
Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis.
Nakazawa S et al.
Nature Communications, 2016
Defects in autophagy caused by glaucoma-associated mutations in optineurin.
Sirohi K et al.
Experimental Eye Research, 2016
Functional analysis of optineurin and some of its disease-associated mutants.
Bansal M et al.
Iubmb Life, 2015
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
Transgenic mice with overexpression of mutated human optineurin(E50K) in the retina.
Meng Q et al.
Molecular Biology Reports, 2012
Cellular and molecular biology of optineurin.
Ying H et al.
International Review of Cell and Molecular Biology, 2012
Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis.
Del Bo R et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2011
Complex genetic mechanisms in glaucoma: an overview.
Rao KN et al.
Indian Journal of Ophthalmology, 2011
Optineurin, a multifunctional protein involved in glaucoma, amyotrophic lateral sclerosis and antiviral signalling.
Swarup G et al.
Journal of Biosciences, 2010
Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.
Chi ZL et al.
Human Molecular Genetics, 2010
Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma.
Fan BJ et al.
Molecular Vision, 2009
Optineurin and its mutants: molecules associated with some forms of glaucoma.
Chalasani ML et al.
Ophthalmic Research, 2009
Absence of optineurin (OPTN) gene mutations in Taiwanese patients with juvenile-onset open-angle glaucoma.
Yen YC et al.
Molecular Vision, 2008
Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.
Kumar A et al.
Molecular Vision, 2007
A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.
Chalasani ML et al.
Investigative Ophthalmology & Visual Science, 2007
Molecular diagnostics of genetic eye diseases.
Fan BJ et al.
Clinical Biochemistry, 2006
Inhibition of metabotropic glutamate receptor signaling by the huntingtin-binding protein optineurin.
Anborgh PH et al.
The Journal of Biological Chemistry, 2005
Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.
Funayama T et al.
Investigative Ophthalmology & Visual Science, 2004
Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.
Willoughby CE et al.
Investigative Ophthalmology & Visual Science, 2004
Different optineurin mutation pattern in primary open-angle glaucoma.
Leung YF et al.
Investigative Ophthalmology & Visual Science, 2003
Common aspects between glaucoma and brain neurodegeneration.
Saccà SC et al.
Mutation Research. Reviews in Mutation Research, 0