Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.H26D
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OPTN

NM_001008212.2:p.H26D

Associated Papers

OPTN protects retinal ganglion cells and ameliorates neuroinflammation in optic neuropathies.

Wang Q et al.

Communications Biology, 2025

41102382 (PubMed )
Supplement: 42003_2025_8534_MOESM5_ESM.pdf

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

[Optineurin and mitochondrial dysfunction in neurodegeneration].

D'Urso B et al.

Medecine Sciences : M/s, 2024

Molecular genetics of primary open-angle glaucoma.

Yadav M et al.

Indian Journal of Ophthalmology, 2023

Neuroinflammatory Mechanisms of Mitochondrial Dysfunction and Neurodegeneration in Glaucoma.

Duarte JN

Journal of Ophthalmology, 2021

Critical role of mitochondrial ubiquitination and the OPTN-ATG9A axis in mitophagy.

Yamano K et al.

The Journal of Cell Biology, 2020

32556086 (PubMed )
Supplement: JCB_201912144_review_history.pdf

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

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

Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins.

Li F et al.

Nature Communications, 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

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

Loss of optineurin in vivo results in elevated cell death and alters axonal trafficking dynamics.

Paulus JD 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

Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.

Chi ZL et al.

Human Molecular Genetics, 2010

Optineurin and its mutants: molecules associated with some forms of glaucoma.

Chalasani ML et al.

Ophthalmic Research, 2009

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

SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma.

Funayama T et al.

Investigative Ophthalmology & Visual Science, 2006

[Low penetrance of His26Asp mutation in the optineurin gene in a Japanese family with normal-tension glaucoma].

Yasuda N et al.

Nippon Ganka Gakkai Zasshi, 2006

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

Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.

Fuse N et al.

Journal of Glaucoma, 2004

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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."