Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.G112G
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OPTN

NM_001008212.2:p.G112G

Associated Papers

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

Glaucoma-Associated Mutations in the Optineurin Gene Have Limited Impact on Parkin-Dependent Mitophagy.

Chernyshova K et al.

Investigative Ophthalmology & Visual Science, 2019

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

Swarup G et al.

Frontiers in Immunology, 2018

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

Bansal M et al.

Iubmb Life, 2015

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

Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients.

Weisschuh N et al.

Molecular Vision, 2005

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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."