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
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
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
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
New mutation in the MYOC gene and its association with primary open-angle glaucoma in a Chinese family.
Qu X et al.
Molecular Biology Reports, 2010
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
Xie X et al.
Molecular Vision, 2008
Functional analysis of the glaucoma-causing TIGR/myocilin protein: integrity of amino-terminal coiled-coil regions and olfactomedin homology domain is essential for extracellular adhesion and secretion.
Gobeil S et al.
Experimental Eye Research, 2006
Molecular analysis of the myocilin gene in Chinese subjects with chronic primary-angle closure glaucoma.
Aung T et al.
Investigative Ophthalmology & Visual Science, 2005
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
The dawn of genetic testing for glaucoma.
Cohen CS et al.
Current Opinion in Ophthalmology, 2004
Founder TIGR/myocilin mutations for glaucoma in the Québec population.
Faucher M et al.
Human Molecular Genetics, 2002
A multidomain TIGR/olfactomedin protein family with conserved structural similarity in the N-terminal region and conserved motifs in the C-terminal region.
Green ML et al.
Molecular & Cellular Proteomics : Mcp, 2002
Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma.
Mabuchi F et al.
Clinical Genetics, 2001
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.
Fingert JH et al.
Investigative Ophthalmology & Visual Science, 2001
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Fingert JH et al.
Human Molecular Genetics, 1999