Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.E50K
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OPTN

NM_001008212.2:p.E50K

Associated Papers

Reversing Mitochondrial Dysfunction in Optineurin E50K Glaucoma: A Metabolic Approach to Neuroprotection.

Petriti B et al.

Research Square, 2026

Comprehensive Serum Proteomics Uncovers Epigenetic and Inflammatory Pathways Underlying Primary Open-Angle Glaucoma.

Sharma V et al.

Journal of Proteome Research, 2026

Glaucoma-associated polymorphism M98K-OPTN sensitizes retinal cells to protein homeostasis stress through p62-mediated caspase activation.

Medchalmi S et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2026

OPTN deficiency through CRISPR/Cas9 downregulates autophagy and mitophagy in a SOD1-G93A-expressing transgenic cell line.

Wen D et al.

Ibro Neuroscience Reports, 2025

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

Wang Q et al.

Communications Biology, 2025

[The role of the HIF-1 signaling pathway in retinal ganglion cell injury caused by the OPTN (E50K) mutation].

Yuan QM et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 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

Inhibiting NLRP3 Inflammasome Activation to Alleviate Retinal Inflammation and Protect the Optic Nerve of OPTN(E50K)Mice.

Wang S et al.

Inflammation, 2025

Evaluating Practical Approaches for Including MYOC Variants Alongside Common Variants for Genetics-Based Risk Stratification for Glaucoma.

Le NQ et al.

American Journal of Ophthalmology, 2025

Region-specific Brain Targets Drive Circuit Formation and Maturation of Human Retinal Ganglion Cells.

Huang KC et al.

Biorxiv : the Preprint Server for Biology, 2025

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Progress in Translating Glaucoma Genetics Into the Clinic: A Review.

Kolovos A et al.

Clinical & Experimental Ophthalmology, 2025

Genetic and clinical analysis of OPTN in amyotrophic lateral sclerosis.

Xiao Y et al.

Journal of Medical Genetics, 2025

Phosphorylation of optineurin by TBK1 drives fragmentation of Golgi apparatus.

Islam MN et al.

Biochemical and Biophysical Research Communications, 2025

Molecular aspects of cytoprotection by Optineurin during stress and disease.

Swarup G et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2025

Precise Generation of Human Induced Pluripotent Stem Cell-derived Cell Lines Harboring Disease-relevant Single Nucleotide Variants Using a Prime Editing System.

Kanno S et al.

Bio-protocol, 2025

Genetic and pharmacological correction of impaired mitophagy in retinal ganglion cells rescues glaucomatous neurodegeneration.

Maddineni P et al.

Biorxiv : the Preprint Server for Biology, 2025

TDP-43 as a potential retinal biomarker for neurodegenerative diseases.

Glashutter M et al.

Frontiers in Neuroscience, 2025

Protein misfolding and mitochondrial dysfunction in glaucoma.

Venkatesan A et al.

Frontiers in Cell and Developmental Biology, 2025

Tank-binding kinase 1 regulates inflammation and autophagy in glaucoma.

Morgan AB et al.

Frontiers in Neuroscience, 2025

Revealing the role of regulatory microglial IRF7-NLRP3 interactions in optic nerve damage of normal-tension glaucoma based on single-cell RNA sequencing.

Qiu L et al.

Frontiers in Immunology, 2025

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

Weil R et al.

Iscience, 2024

Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.

Luan T et al.

Neuroscience Bulletin, 2024

Age-related effects of optineurin deficiency in the mouse eye.

Su CC et al.

Vision Research, 2024

Acquisition of neurodegenerative features in isogenic OPTN(E50K) human stem cell-derived retinal ganglion cells associated with autophagy disruption and mTORC1 signaling reduction.

Huang KC et al.

Acta Neuropathologica Communications, 2024

Molecular genetics of inherited normal tension glaucoma.

Pan Y et al.

Indian Journal of Ophthalmology, 2024

Association of Gene Polymorphisms with Normal Tension Glaucoma: A Systematic Review and Meta-Analysis.

Pan L et al.

Genes, 2024

Optineurin-facilitated axonal mitochondria delivery promotes neuroprotection and axon regeneration.

Liu D et al.

Biorxiv : the Preprint Server for Biology, 2024

Optineurin provides a mitophagy contact site for TBK1 activation.

Yamano K et al.

The Embo Journal, 2024

OPTN gene therapy increases autophagy and protects mitochondria in SOD1-G93A-expressing transgenic mice and cells.

Wen D et al.

The Febs Journal, 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

Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function.

Lei Q et al.

Stem Cell Reports, 2024

Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.

Milla E et al.

Plos One, 2024

Identification of OPTN p.(Asn51Thr): A novel pathogenic variant in primary open-angle glaucoma.

Shiga Y et al.

Genetics in Medicine Open, 2024

Role of ALS-associated OPTN-K489E mutation in neuronal cell-death regulation.

Mishra D et al.

Molecular and Cellular Neurosciences, 2023

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

Targeting Mitochondrial Dysfunction and Oxidative Stress to Prevent the Neurodegeneration of Retinal Ganglion Cells.

Catalani E et al.

Antioxidants (basel, Switzerland), 2023

Familial normal tension glaucoma genetics.

Fox AR et al.

Progress in Retinal and Eye Research, 2023

Mitophagy in the retina: Viewing mitochondrial homeostasis through a new lens.

Jiménez-Loygorri JI et al.

Progress in Retinal and Eye Research, 2023

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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."