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
Clinical and genetic determinants of survival in amyotrophic lateral sclerosis patients from North India.
Khurana S et al.
Brain Communications, 2026
OPTN deficiency through CRISPR/Cas9 downregulates autophagy and mitophagy in a SOD1-G93A-expressing transgenic cell line.
Wen D et al.
Ibro Neuroscience Reports, 2025
Optineurin is an adaptor protein for ubiquitinated substrates in Golgi membrane-associated degradation.
Nibe-Shirakihara Y et al.
Nature Communications, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Molecular aspects of cytoprotection by Optineurin during stress and disease.
Swarup G et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.
Nan H et al.
Alzheimer's Research & Therapy, 2024
Molecular genetics of inherited normal tension glaucoma.
Pan Y et al.
Indian Journal of Ophthalmology, 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
OPTN gene therapy increases autophagy and protects mitochondria in SOD1-G93A-expressing transgenic mice and cells.
Wen D et al.
The Febs Journal, 2024
[Optineurin and mitochondrial dysfunction in neurodegeneration].
D'Urso B et al.
Medecine Sciences : M/s, 2024
Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis.
Genin EC et al.
Genes, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Neuroimmune characterization of optineurin insufficiency mouse model during ageing.
Mohovic N et al.
Scientific Reports, 2023
Prospects for gene replacement therapies in amyotrophic lateral sclerosis.
Giovannelli I et al.
Nature Reviews. Neurology, 2023
Involvement of heterologous ubiquitination including linear ubiquitination in Alzheimer's disease and amyotrophic lateral sclerosis.
Sato Y et al.
Frontiers in Molecular Biosciences, 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
Fundamental roles of the Optineurin gene in the molecular pathology of Amyotrophic Lateral Sclerosis.
Zhao S et al.
Frontiers in Neuroscience, 2023
Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.
Grosjean I et al.
Autophagy, 2022
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 2022
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
Suppression of Linear Ubiquitination Ameliorates Cytoplasmic Aggregation of Truncated TDP-43.
Zhang Q et al.
Cells, 2022
Optineurin Deficiency and Insufficiency Lead to Higher Microglial TDP-43 Protein Levels.
Prtenjaca N et al.
International Journal of Molecular Sciences, 2022
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
Emerging views of OPTN (optineurin) function in the autophagic process associated with disease.
Qiu Y et al.
Autophagy, 2022
Nearly 30 Years of Animal Models to Study Amyotrophic Lateral Sclerosis: A Historical Overview and Future Perspectives.
Bonifacino T et al.
International Journal of Molecular Sciences, 2021
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
Conformational stabilization of optineurin by the dynamic interaction of linear polyubiquitin.
Kitamura A et al.
Biochemical and Biophysical Research Communications, 2021
Optineurin defects cause TDP43-pathology with autophagic vacuolar formation.
Kurashige T et al.
Neurobiology of Disease, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Novel Optineurin Frameshift Insertion in a Family With Frontotemporal Dementia and Parkinsonism Without Amyotrophic Lateral Sclerosis.
Dominguez J et al.
Frontiers in Neurology, 2021
ALS Genetics: Gains, Losses, and Implications for Future Therapies.
Kim G et al.
Neuron, 2020
Optineurin regulates osteoblastogenesis through STAT1.
Mizuno N et al.
Biochemical and Biophysical Research Communications, 2020
Linear Ubiquitin Code: Its Writer, Erasers, Decoders, Inhibitors, and Implications in Disorders.
Oikawa D et al.
International Journal of Molecular Sciences, 2020
Pathomechanism Heterogeneity in the Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Disease Spectrum: Providing Focus Through the Lens of Autophagy.
Casterton RL et al.
Journal of Molecular Biology, 2020
Genome-wide siRNA screening reveals that DCAF4-mediated ubiquitination of optineurin stimulates autophagic degradation of Cu,Zn-superoxide dismutase.
Homma K et al.
The Journal of Biological Chemistry, 2020
Misconnecting the dots: altered mitochondrial protein-protein interactions and their role in neurodegenerative disorders.
Zilocchi M et al.
Expert Review of Proteomics, 2020
Mendelian neurodegenerative disease genes involved in autophagy.
Stamatakou E et al.
Cell Discovery, 2020
Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
Ranganathan R et al.
Frontiers in Neuroscience, 2020
Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.
Feng SM et al.
Annals of Clinical and Translational Neurology, 2019
Determination of cytoplasmic optineurin foci sizes using image correlation spectroscopy.
Kitamura A et al.
Journal of Biochemistry, 2018
Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration.
Maurel C et al.
Molecular Neurobiology, 2018
Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations.
Ayaki T et al.
Journal of Neuropathology and Experimental Neurology, 2018
Optineurin: A Coordinator of Membrane-Associated Cargo Trafficking and Autophagy.
Ryan TA et al.
Frontiers in Immunology, 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