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
From Evasion to Collapse: The Kinetic Cascade of TDP-43 and the Failure of Proteostasis.
Jamerlan A et al.
International Journal of Molecular Sciences, 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
PPP2/PP2A-mediated dephosphorylation of LC3B links PINK1-PRKN/Parkin-mediated mitophagy to SCA12 pathogenesis.
Li N et al.
Autophagy, 2025
Optineurin is an adaptor protein for ubiquitinated substrates in Golgi membrane-associated degradation.
Nibe-Shirakihara Y et al.
Nature Communications, 2025
Inborn errors of canonical autophagy in neurodegenerative diseases.
Freisem D et al.
Human Molecular Genetics, 2025
Glaucoma-associated Optineurin mutations increase transcellular degradation of mitochondria in a vertebrate optic nerve.
Jeong Y et al.
Elife, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Optineurin knock-out forms TDP-43 aggregates to regulate TDP-43 protein levels despite autophagic up-regulation and aberrant TDP-43 expression.
Maetani Y et al.
Neuroscience Research, 2025
Rare Diseases, Spotlighting Amyotrophic Lateral Sclerosis, Huntington's Disease, and Myasthenia Gravis: Insights from Landscape Analysis of Current Research.
Iyer KA et al.
Biochemistry, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Genetic and clinical analysis of OPTN in amyotrophic lateral sclerosis.
Xiao Y et al.
Journal of Medical Genetics, 2025
Phosphorylation of optineurin by TBK1 drives fragmentation of Golgi apparatus.
Islam MN et al.
Biochemical and Biophysical Research Communications, 2025
Molecular aspects of cytoprotection by Optineurin during stress and disease.
Swarup G et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2025
The role of autophagy in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Beckers J et al.
Autophagy Reports, 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
Preserving mitochondrial homeostasis protects against drug-induced liver injury via inducing OPTN (optineurin)-dependent Mitophagy.
Wang J et al.
Autophagy, 2024
Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.
Luan T et al.
Neuroscience Bulletin, 2024
Secondary interactions in ubiquitin-binding domains achieve linkage or substrate specificity.
Michel MA et al.
Cell Reports, 2024
High-content analysis of proteostasis capacity in cellular models of amyotrophic lateral sclerosis (ALS).
Lambert-Smith IA et al.
Scientific Reports, 2024
Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.
Nan H et al.
Alzheimer's Research & Therapy, 2024
Mitochondria-lysosome-extracellular vesicles axis and nanotheranostics in neurodegenerative diseases.
Kou L et al.
Experimental Neurology, 2024
Molecular genetics of inherited normal tension glaucoma.
Pan Y et al.
Indian Journal of Ophthalmology, 2024
Optineurin-facilitated axonal mitochondria delivery promotes neuroprotection and axon regeneration.
Liu D et al.
Biorxiv : the Preprint Server for Biology, 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
Role of ALS-associated OPTN-K489E mutation in neuronal cell-death regulation.
Mishra D et al.
Molecular and Cellular Neurosciences, 2023
Ubiquitin proteasome system and glaucoma: A survey of genetics and molecular biology studies supporting a link with pathogenic and therapeutic relevance.
Pandino I et al.
Molecular Aspects of Medicine, 2023
Mitochondria, a Key Target in Amyotrophic Lateral Sclerosis Pathogenesis.
Genin EC et al.
Genes, 2023
Optineurin tunes outside-in signaling to regulate lysosome biogenesis and phagocytic clearance in the retina.
Tan LX et al.
Current Biology : Cb, 2023
UBQLN2 and HSP70 participate in Parkin-mediated mitophagy by facilitating outer mitochondrial membrane rupture.
Ma Q et al.
Embo Reports, 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
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.
Suzuki N et al.
Journal of Human Genetics, 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
Potential roles of the endoplasmic reticulum stress pathway in amyotrophic lateral sclerosis.
Jeon YM et al.
Frontiers in Aging Neuroscience, 2023
Amyotrophic lateral sclerosis.
Younger DS et al.
Handbook of Clinical 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
TDP-43 Proteinopathy and Tauopathy: Do They Have Pathomechanistic Links?
Riku Y et al.
International Journal of Molecular Sciences, 2022
The interaction between E3 ubiquitin ligase Parkin and mitophagy receptor PHB2 links inner mitochondrial membrane ubiquitination to efficient mitophagy.
Sun S et al.
The Journal of Biological Chemistry, 2022
Autophagopathies: from autophagy gene polymorphisms to precision medicine for human diseases.
Grosjean I et al.
Autophagy, 2022
Zebrafish optineurin: genomic organization and transcription regulation.
Silva IAL et al.
Genome, 2022
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 2022
Drug Discovery Strategies for Inherited Retinal Degenerations.
Das A et al.
Biology, 2022
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
Gefitinib facilitates PINK1/Parkin-mediated mitophagy by enhancing mitochondrial recruitment of OPTN.
Li N et al.
Fundamental Research, 2022