Associated Papers
The genetics of autosomal recessive ALS: a review of the common forms and their phenotypes.
Allen MD et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2026
Tank-binding kinase 1 regulates inflammation and autophagy in glaucoma.
Morgan AB et al.
Frontiers in Neuroscience, 2025
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis.
Barel D et al.
Journal of Neurology, 2024
Optineurin in patients with Amyotrophic Lateral Sclerosis associated to atypical Parkinsonism in Tunisian population.
Kacem I et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024
Roles of Optineurin and Extracellular Vesicles in Glaucomatous Retinal Cell Loss.
Duan CY et al.
Current Medical Science, 2023
The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Davidson JM et al.
Neurobiology of Disease, 2022
Cellular stress signaling and the unfolded protein response in retinal degeneration: mechanisms and therapeutic implications.
McLaughlin T et al.
Molecular Neurodegeneration, 2022
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Gotkine M et al.
Neurobiology of Aging, 2021
A glaucoma- and ALS-associated mutant of OPTN induces neuronal cell death dependent on Tbk1 activity, autophagy and ER stress.
Medchalmi S et al.
The Febs Journal, 2021
Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.
Feng SM et al.
Annals of Clinical and Translational Neurology, 2019
Glaucoma-Associated Mutations in the Optineurin Gene Have Limited Impact on Parkin-Dependent Mitophagy.
Chernyshova K et al.
Investigative Ophthalmology & Visual Science, 2019
Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients.
He JN et al.
Disease Markers, 2019
OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.
Farhan SMK et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
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
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 amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.
Fifita JA et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017
Cellular Functions of Optineurin in Health and Disease.
Slowicka K et al.
Trends in Immunology, 2016
OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.
Goldstein O et al.
Neurology, 2016
Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation.
Di L et al.
Journal of Neurology, 2016
Genetics of primary open angle glaucoma.
Takamoto M et al.
Japanese Journal of Ophthalmology, 2014
Effects of mutations and deletions in the human optineurin gene.
Turturro S et al.
Springerplus, 2014
Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese.
Iida A et al.
Neurobiology of Aging, 2012
Cellular and molecular biology of optineurin.
Ying H et al.
International Review of Cell and Molecular Biology, 2012
Screening of OPTN in French familial amyotrophic lateral sclerosis.
Millecamps S et al.
Neurobiology of Aging, 2011
Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients.
Caixeta-Umbelino C et al.
Ophthalmic Genetics, 2009
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
Variation in optineurin (OPTN) allele frequencies between and within populations.
Ayala-Lugo RM et al.
Molecular Vision, 2007
Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases.
Jansson M et al.
Ophthalmic Genetics, 2005
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
Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.
Fuse N et al.
Journal of Glaucoma, 2004
Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients.
Umeda T et al.
Ophthalmic Genetics, 2004
Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma.
Toda Y et al.
American Journal of Medical Genetics. Part A, 2004
Different optineurin mutation pattern in primary open-angle glaucoma.
Leung YF et al.
Investigative Ophthalmology & Visual Science, 2003
Adult-onset primary open-angle glaucoma caused by mutations in optineurin.
Rezaie T et al.
Science (new York, N.y.), 2002