Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Paucity of optineurin gene variants in Indian juvenile open-angle glaucoma patients.
Yadav M et al.
Indian Journal of Ophthalmology, 2025
Evaluating Practical Approaches for Including MYOC Variants Alongside Common Variants for Genetics-Based Risk Stratification for Glaucoma.
Le NQ et al.
American 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
Genetic analysis of ERBB4 gene in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature.
Shen D et al.
Frontiers in Aging Neuroscience, 2025
Tank-binding kinase 1 regulates inflammation and autophagy in glaucoma.
Morgan AB et al.
Frontiers in Neuroscience, 2025
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Marriott H et al.
Annals of Clinical and Translational Neurology, 2024
Molecular genetics of inherited normal tension glaucoma.
Pan Y et al.
Indian Journal of Ophthalmology, 2024
Rodent genetically modified models of glaucoma.
Loo Y et al.
Molecular Aspects of Medicine, 2024
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
Familial normal tension glaucoma genetics.
Fox AR et al.
Progress in Retinal and Eye Research, 2023
Molecular genetics of primary open-angle glaucoma.
Yadav M et al.
Indian Journal of Ophthalmology, 2023
Roles of Optineurin and Extracellular Vesicles in Glaucomatous Retinal Cell Loss.
Duan CY et al.
Current Medical Science, 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
Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.
Li Y et al.
Bmc Ophthalmology, 2022
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.
Zhang W et al.
Frontiers in Pediatrics, 2022
Prove pathogenicity of OPTN variants before establishing a causal relation with amyotrophic lateral sclerosis.
Finsterer J et al.
Neurobiology of Aging, 2021
The optineurin/TIA1 pathway inhibits aberrant stress granule formation and reduces ubiquitinated TDP-43.
Kakihana T et al.
Iscience, 2021
The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.
Rozpędek-Kamińska W et al.
International Journal of Molecular Sciences, 2020
Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.
Scarlino S et al.
International Journal of Molecular Sciences, 2020
Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.
Feng SM et al.
Annals of Clinical and Translational Neurology, 2019
Mendelian genes in primary open angle glaucoma.
Sears NC et al.
Experimental Eye Research, 2019
Glaucoma-Associated Mutations in the Optineurin Gene Have Limited Impact on Parkin-Dependent Mitophagy.
Chernyshova K et al.
Investigative Ophthalmology & Visual Science, 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Mehta PR et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients.
He JN et al.
Disease Markers, 2019
Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.
Zhang H et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Optineurin Functions for Optimal Immunity.
Slowicka K 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
Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms.
Markovinovic A et al.
Progress in Neurobiology, 2017
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Morgan S et al.
Brain : a Journal of Neurology, 2017
Genetic variants associated with primary open angle glaucoma in Indian population.
Kumar S et al.
Genomics, 2017
Significance of optineurin mutations in glaucoma and other diseases.
Minegishi Y et al.
Progress in Retinal and Eye Research, 2016
Decreased expression of miR‑9 due to E50K OPTN mutation causes disruption of the expression of BDNF leading to RGC‑5 cell apoptosis.
Jiang B et al.
Molecular Medicine Reports, 2016
Cellular Functions of Optineurin in Health and Disease.
Slowicka K et al.
Trends in Immunology, 2016
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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Candidate genes involved in the susceptibility of primary open angle glaucoma.
Kumar S et al.
Gene, 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
Functional analysis of optineurin and some of its disease-associated mutants.
Bansal M et al.
Iubmb Life, 2015
The genome of a Mongolian individual reveals the genetic imprints of Mongolians on modern human populations.
Bai H et al.
Genome Biology and Evolution, 2014