Associated Papers
Disease Modeling of Myocilin Mutation Dependent Normal Tension Glaucoma: Human Retinal Ganglion Cell Susceptibility to UPR and mTOR Signaling.
Shil SK et al.
Stem Cells (dayton, Ohio), 2026
Therapeutic mRNA delivery of CRISPR-Cas9 to the trabecular meshwork reverses ocular hypertension in myocilin glaucoma.
Yacoub S et al.
Molecular Therapy. Methods & Clinical Development, 2025
Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.
Cronbach N et al.
Pharmaceuticals (basel, Switzerland), 2025
Absence of Glaucoma in Tg-MYOCY437H Mice of Diverse Genetic Backgrounds.
Tolman NG et al.
Investigative Ophthalmology & Visual Science, 2025
Genetic and pharmacological correction of impaired mitophagy in retinal ganglion cells rescues glaucomatous neurodegeneration.
Maddineni P et al.
Biorxiv : the Preprint Server for Biology, 2025
Impaired axonal transport contributes to neurodegeneration in a Cre-inducible mouse model of myocilin-associated glaucoma.
Kaipa BR et al.
Jci Insight, 2025
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Impaired axonal transport at the optic nerve head contributes to neurodegeneration in a novel Cre-inducible mouse model of myocilin glaucoma.
Kaipa BR et al.
Biorxiv : the Preprint Server for Biology, 2024
iPSC-derived cells stimulate ABCG2+/NES+ endogenous trabecular meshwork cell proliferation and tissue regeneration.
Xi G et al.
Cell Proliferation, 2024
Molecular genetics of inherited normal tension glaucoma.
Pan Y et al.
Indian Journal of Ophthalmology, 2024
Exploring the Genetic Landscape of Childhood Glaucoma.
Pan Y et al.
Children (basel, Switzerland), 2024
Lentiviral mediated delivery of CRISPR/Cas9 reduces intraocular pressure in a mouse model of myocilin glaucoma.
Patil SV et al.
Scientific Reports, 2024
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
Rodent genetically modified models of glaucoma.
Loo Y et al.
Molecular Aspects of Medicine, 2024
Competition between inside-out unfolding and pathogenic aggregation in an amyloid-forming β-propeller.
Saccuzzo EG et al.
Nature Communications, 2024
Lentiviral mediated delivery of CRISPR/Cas9 reduces intraocular pressure in a mouse model of myocilin glaucoma.
Patil SV et al.
Research Square, 2023
Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle Glaucoma in Transgenic Mice.
Cheng Y et al.
Cellular and Molecular Neurobiology, 2023
Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG et al.
Progress in Retinal and Eye Research, 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
Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.
Scelsi HF et al.
Disease Models & Mechanisms, 2023
AUTOPHAGY IN THE EYE: FROM PHYSIOLOGY TO PATHOPHYSOLOGY.
Liton PB et al.
Autophagy Reports, 2023
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 2023
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP et al.
Human Mutation, 2022
Drug Discovery Strategies for Inherited Retinal Degenerations.
Das A et al.
Biology, 2022
Calcium dysregulation potentiates wild-type myocilin misfolding: implications for glaucoma pathogenesis.
Saccuzzo EG et al.
Journal of Biological Inorganic Chemistry : Jbic : a Publication of the Society of Biological Inorganic Chemistry, 2022
A Simple Secretion Assay for Assessing New and Existing Myocilin Variants.
Nakahara E et al.
Current Eye Research, 2022
Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.
Xie JJ et al.
Ophthalmic Genetics, 2022
Myocilin Gene Mutation Induced Autophagy Activation Causes Dysfunction of Trabecular Meshwork Cells.
Yan X et al.
Frontiers in Cell and Developmental Biology, 2022
Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.
Zhou B et al.
Frontiers in Genetics, 2022
Age at Glaucoma Diagnosis in Germline Myocilin Mutation Patients: Associations with Polymorphisms in Protein Stabilities.
Tanji T et al.
Genes, 2021
Genetic Determinants of Intraocular Pressure.
Xu Z et al.
Annual Review of Vision Science, 2021
iPSC-Derived Trabecular Meshwork Cells Stimulate Endogenous TM Cell Division Through Gap Junction in a Mouse Model of Glaucoma.
Sui S et al.
Investigative Ophthalmology & Visual Science, 2021
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
Molecular Insights into Myocilin and Its Glaucoma-Causing Misfolded Olfactomedin Domain Variants.
Lieberman RL et al.
Accounts of Chemical Research, 2021
Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin.
Kasetti RB et al.
Jci Insight, 2021
Stem cell transplantation rescued a primary open-angle glaucoma mouse model.
Xiong S et al.
Elife, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
The Genetic and Endoplasmic Reticulum-Mediated Molecular Mechanisms of Primary Open-Angle Glaucoma.
Rozpędek-Kamińska W et al.
International Journal of Molecular Sciences, 2020
Angiopoietin-1 Knockout Mice as a Genetic Model of Open-Angle Glaucoma.
Thomson BR et al.
Translational Vision Science & Technology, 2020
Cross-talk between MYOC p. Y437H mutation and TGF-β2 in the pathology of glaucoma.
Yang Y et al.
International Journal of Medical Sciences, 2020