Associated Papers
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Exploring the Genetic Landscape of Childhood Glaucoma.
Pan Y et al.
Children (basel, Switzerland), 2024
Somatic Mutations within Myocilin due to Aging May Be a Potential Risk Factor for Glaucoma.
Sazhnyev Y et al.
Genes, 2024
Identification of OPTN p.(Asn51Thr): A novel pathogenic variant in primary open-angle glaucoma.
Shiga Y et al.
Genetics in Medicine Open, 2024
Evaluation of Myocilin Variant Protein Structures Modeled by AlphaFold2.
Ng TK et al.
Biomolecules, 2023
Myocilin misfolding and glaucoma: A 20-year update.
Saccuzzo EG et al.
Progress in Retinal and Eye Research, 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
Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.
Zhou B et al.
Frontiers in Genetics, 2022
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.
Scelsi HF et al.
Human Mutation, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Clinical and genetic analysis of Ser341Pro MYOC variant in a Korean family with primary open angle glaucoma.
Moon S et al.
International Journal of Ophthalmology, 2020
A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family.
Yao YH et al.
International Journal of Ophthalmology, 2018
A Novel Luciferase Assay For Sensitively Monitoring Myocilin Variants in Cell Culture.
Zadoo S et al.
Investigative Ophthalmology & Visual Science, 2016
Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma.
Stothert AR et al.
Experimental Eye Research, 2016
Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.
Yang Y et al.
Gene, 2015
Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.
Wang F et al.
International Journal of Molecular Medicine, 2015
A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor.
Kuchtey J et al.
European Journal of Medical Genetics, 2013
Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.
Zhao X et al.
Molecular Vision, 2010
Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones.
Burns JN et al.
Acs Chemical Biology, 2010
Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.
Jia LY et al.
Investigative Ophthalmology & Visual Science, 2009
Glaucoma-associated myocilin: a better understanding but much more to learn.
Resch ZT et al.
Experimental Eye Research, 2009
Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma.
Carbone MA et al.
Plos One, 2009
Sodium 4-phenylbutyrate acts as a chemical chaperone on misfolded myocilin to rescue cells from endoplasmic reticulum stress and apoptosis.
Yam GH et al.
Investigative Ophthalmology & Visual Science, 2007
Aggregated myocilin induces russell bodies and causes apoptosis: implications for the pathogenesis of myocilin-caused primary open-angle glaucoma.
Yam GH et al.
The American Journal of Pathology, 2007
Molecular diagnostics of genetic eye diseases.
Fan BJ et al.
Clinical Biochemistry, 2006
Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.
Fan BJ et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2006
Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma (JOAG).
Turalba AV et al.
Seminars in Ophthalmology, 0
Juvenile-onset open-angle glaucoma - A clinical and genetic update.
Selvan H et al.
Survey of Ophthalmology, 0