Associated Papers
OPTN protects retinal ganglion cells and ameliorates neuroinflammation in optic neuropathies.
Wang Q et al.
Communications Biology, 2025
Paucity of optineurin gene variants in Indian juvenile open-angle glaucoma patients.
Yadav M et al.
Indian Journal of Ophthalmology, 2025
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis.
Manini A et al.
Annals of Clinical and Translational Neurology, 2025
Association between gene polymorphisms and glaucoma susceptibility among Africans: a systematic review and meta-analysis.
Asiamah R et al.
Ophthalmic Genetics, 2025
Evaluation of GFM1 mutations pathogenicity through in silico tools, RNA sequencing and mitophagy pahtway in GFM1 knockout cells.
Ahmad B et al.
International Journal of Biological Macromolecules, 2025
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Molecular genetics of primary open-angle glaucoma.
Yadav M et al.
Indian Journal of Ophthalmology, 2023
Fundamental roles of the Optineurin gene in the molecular pathology of Amyotrophic Lateral Sclerosis.
Zhao S et al.
Frontiers in Neuroscience, 2023
The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.
Rozpędek-Kamińska W et al.
International Journal of Molecular Sciences, 2020
FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.
Zhou B et al.
Brain and Behavior, 2020
Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.
Senanarong V et al.
Diagnostics (basel, Switzerland), 2020
Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.
Feng SM et al.
Annals of Clinical and Translational Neurology, 2019
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 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
Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients.
Park J et al.
Molecular Medicine Reports, 2016
Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis.
Nakazawa S et al.
Nature Communications, 2016
Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.
Bury JJ et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2016
Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).
Lattante S et al.
Trends in Genetics : Tig, 2015
Co-occurrence of the C9ORF72 expansion and a novel GRN mutation in a family with alternative expression of frontotemporal dementia and amyotrophic lateral sclerosis.
Testi S et al.
Journal of Alzheimer's Disease : Jad, 2015
A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany.
Weishaupt JH et al.
Neurobiology of Aging, 2013
M98K-OPTN induces transferrin receptor degradation and RAB12-mediated autophagic death in retinal ganglion cells.
Sirohi K et al.
Autophagy, 2013
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?
van Blitterswijk M et al.
Current Opinion in Neurology, 2012
Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
Cooper-Knock J et al.
Brain : a Journal of Neurology, 2012
Cellular and molecular biology of optineurin.
Ying H et al.
International Review of Cell and Molecular Biology, 2012
Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population.
Sugihara K et al.
Neurobiology of Aging, 2011
Optineurin and its mutants: molecules associated with some forms of glaucoma.
Chalasani ML et al.
Ophthalmic Research, 2009
Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma.
Liu Y et al.
Molecular Vision, 2008
Variation in optineurin (OPTN) allele frequencies between and within populations.
Ayala-Lugo RM et al.
Molecular Vision, 2007