Associated Papers
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
Molecular genetics of inherited normal tension glaucoma.
Pan Y et al.
Indian Journal of Ophthalmology, 2024
[Optineurin and mitochondrial dysfunction in neurodegeneration].
D'Urso B et al.
Medecine Sciences : M/s, 2024
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
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 2022
Exome Sequencing of a Portuguese Cohort of Frontotemporal Dementia Patients: Looking Into the ALS-FTD Continuum.
Tábuas-Pereira M et al.
Frontiers in Neurology, 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
The optineurin/TIA1 pathway inhibits aberrant stress granule formation and reduces ubiquitinated TDP-43.
Kakihana T et al.
Iscience, 2021
Amyotrophic Lateral Sclerosis (ALS): Stressed by Dysfunctional Mitochondria-Endoplasmic Reticulum Contacts (MERCs).
Chen J et al.
Cells, 2021
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
The role of protein complexes in human genetic disease.
Bergendahl LT et al.
Protein Science : a Publication of the Protein Society, 2019
A protein quality control pathway regulated by linear ubiquitination.
van Well EM et al.
The Embo Journal, 2019
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
Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms.
Markovinovic A et al.
Progress in Neurobiology, 2017
Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins.
Li F et al.
Nature Communications, 2016
Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis.
Nakazawa S et al.
Nature Communications, 2016
Functional analysis of optineurin and some of its disease-associated mutants.
Bansal M et al.
Iubmb Life, 2015
Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.
Teyssou E et al.
Neurobiology of Aging, 2014
Effects of mutations and deletions in the human optineurin gene.
Turturro S et al.
Springerplus, 2014
Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population.
Naruse H et al.
Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012
Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS.
Tümer Z et al.
Neurobiology of Aging, 2012
Cellular and molecular biology of optineurin.
Ying H et al.
International Review of Cell and Molecular Biology, 2012
Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis.
Del Bo R et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2011
Screening of OPTN in French familial amyotrophic lateral sclerosis.
Millecamps S et al.
Neurobiology of Aging, 2011