Associated Papers
Optineurin is an adaptor protein for ubiquitinated substrates in Golgi membrane-associated degradation.
Nibe-Shirakihara Y et al.
Nature Communications, 2025
Genetic and clinical analysis of OPTN in amyotrophic lateral sclerosis.
Xiao Y et al.
Journal of Medical Genetics, 2025
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
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS
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
Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.
Feng SM et al.
Annals of Clinical and Translational Neurology, 2019
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