Associated Papers
Molecular aspects of cytoprotection by Optineurin during stress and disease.
Swarup G et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2025
Prospects for gene replacement therapies in amyotrophic lateral sclerosis.
Giovannelli I et al.
Nature Reviews. Neurology, 2023
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
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
34544842 (PubMed )
Supplement: jmedgenet-2021-107965supp003.pdf
The optineurin/TIA1 pathway inhibits aberrant stress granule formation and reduces ubiquitinated TDP-43.
Kakihana T et al.
Iscience, 2021
Mendelian neurodegenerative disease genes involved in autophagy.
Stamatakou E et al.
Cell Discovery, 2020
Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.
Feng SM et al.
Annals of Clinical and Translational Neurology, 2019
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Mehta PR et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma.
Toth RP et al.
Frontiers in Immunology, 2018
The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.
McCann EP et al.
Clinical Genetics, 2017
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 amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.
Fifita JA et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017
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