Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.G23*
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OPTN

NM_001008212.2:p.G23*

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Fundamental roles of the Optineurin gene in the molecular pathology of Amyotrophic Lateral Sclerosis.

Zhao S et al.

Frontiers in Neuroscience, 2023

OPTN variants in ALS cases: a case report of a novel mutation and literature review.

Mou Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.

Feng SM et al.

Annals of Clinical and Translational Neurology, 2019

Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma.

Toth RP et al.

Frontiers in Immunology, 2018

ALS-Associated E478G Mutation in Human OPTN (Optineurin) Promotes Inflammation and Induces Neuronal Cell Death.

Liu Z et al.

Frontiers in Immunology, 2018

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms.

Markovinovic A et al.

Progress in Neurobiology, 2017

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany.

Weishaupt JH et al.

Neurobiology of Aging, 2013

Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population.

Naruse H et al.

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012

Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese.

Iida A et al.

Neurobiology of Aging, 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

Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.

Sharma R et al.

Mutation Research. Reviews in Mutation Research, 0

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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."