Associated Papers
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG et al.
Progress in Retinal and Eye Research, 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
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP et al.
Human Mutation, 2022
Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis.
Xie JJ et al.
Ophthalmic Genetics, 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
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
Physiological function of myocilin and its role in the pathogenesis of glaucoma in the trabecular meshwork (Review).
Wang H et al.
International Journal of Molecular Medicine, 2019
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Structural basis for misfolding in myocilin-associated glaucoma.
Donegan RK et al.
Human Molecular Genetics, 2015
The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein.
Donegan RK et al.
The Journal of Biological Chemistry, 2012
The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.
Burns JN et al.
Biochemistry, 2011
Glaucoma-associated myocilin: a better understanding but much more to learn.
Resch ZT et al.
Experimental Eye Research, 2009
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.
Shepard AR et al.
Human Molecular Genetics, 2007
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.
Fingert JH et al.
Investigative Ophthalmology & Visual Science, 2001
Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.
Stoilova D et al.
Journal of Medical Genetics, 1998