Associated Papers
Comprehensive Serum Proteomics Uncovers Epigenetic and Inflammatory Pathways Underlying Primary Open-Angle Glaucoma.
Sharma V et al.
Journal of Proteome Research, 2026
Glaucoma-associated polymorphism M98K-OPTN sensitizes retinal cells to protein homeostasis stress through p62-mediated caspase activation.
Medchalmi S et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2026
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
OPTN protects retinal ganglion cells and ameliorates neuroinflammation in optic neuropathies.
Wang Q et al.
Communications Biology, 2025
Glaucoma-associated Optineurin mutations increase transcellular degradation of mitochondria in a vertebrate optic nerve.
Jeong Y et al.
Elife, 2025
The genetics of motor neuron disease in New Zealand.
Mrkela M et al.
Journal of the Neurological Sciences, 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
Association between gene polymorphisms and glaucoma susceptibility among Africans: a systematic review and meta-analysis.
Asiamah R et al.
Ophthalmic Genetics, 2025
Genetic and clinical analysis of OPTN in amyotrophic lateral sclerosis.
Xiao Y et al.
Journal of Medical Genetics, 2025
Molecular aspects of cytoprotection by Optineurin during stress and disease.
Swarup G et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2025
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 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
Association of Gene Polymorphisms with Normal Tension Glaucoma: A Systematic Review and Meta-Analysis.
Pan L et al.
Genes, 2024
[Optineurin and mitochondrial dysfunction in neurodegeneration].
D'Urso B et al.
Medecine Sciences : M/s, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 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
Mitophagy in the retina: Viewing mitochondrial homeostasis through a new lens.
Jiménez-Loygorri JI et al.
Progress in Retinal and Eye Research, 2023
Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.
Scaber J et al.
European Journal of Neurology, 2023
A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG.
Yadav M et al.
Indian Journal of Ophthalmology, 2023
The Role of Mitophagy in Glaucomatous Neurodegeneration.
Stavropoulos D et al.
Cells, 2023
TBK1 Knockdown Alleviates Axonal Transport Deficits in Retinal Ganglion Cells Via mTORC1 Activation in a Retinal Damage Mouse Model.
Ye M et al.
Investigative Ophthalmology & Visual Science, 2023
A glaucoma-associated OPTN polymorphism, M98K sensitizes retinal cells to endoplasmic reticulum stress and tumour necrosis factor α.
Sayyad Z et al.
The Febs Journal, 2023
A novel optinEuRin stress connection in glaucoma.
Lafont E et al.
The Febs Journal, 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
Molecular subtypes of ALS are associated with differences in patient prognosis.
Eshima J et al.
Nature Communications, 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
Autophagy-independent cytoprotection by optineurin from toxicity of aggregates formed by mutant huntingtin and mutant ataxin-3.
Moharir SC et al.
Journal of Biochemistry, 2022
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.
Rossi G et al.
Frontiers in Aging Neuroscience, 2022
An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients.
Li J et al.
Iscience, 2021
Establishing risk of vision loss in Leber hereditary optic neuropathy.
Lopez Sanchez MIG et al.
American Journal of Human Genetics, 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
Microglia RAGE exacerbates the progression of neurodegeneration within the SOD1G93A murine model of amyotrophic lateral sclerosis in a sex-dependent manner.
MacLean M et al.
Journal of Neuroinflammation, 2021