Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.E103D
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OPTN

NM_001008212.2:p.E103D

Associated Papers

Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia.

Ng ASL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

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

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

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

Li F et al.

Nature Communications, 2016

Optineurin: The autophagy connection.

Ying H et al.

Experimental Eye Research, 2016

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

Bansal M et al.

Iubmb Life, 2015

Cellular and molecular biology of optineurin.

Ying H et al.

International Review of Cell and Molecular Biology, 2012

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

Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma.

Fan BJ et al.

Molecular Vision, 2009

Absence of optineurin (OPTN) gene mutations in Taiwanese patients with juvenile-onset open-angle glaucoma.

Yen YC et al.

Molecular Vision, 2008

Molecular diagnostics of genetic eye diseases.

Fan BJ et al.

Clinical Biochemistry, 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

Different optineurin mutation pattern in primary open-angle glaucoma.

Leung YF et al.

Investigative Ophthalmology & Visual Science, 2003

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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."