Associated Papers
Structural basis for anomalous cellular trafficking behavior of glaucoma-associated A427T mutant myocilin.
Hill KR et al.
Biorxiv : the Preprint Server for Biology, 2025
Antibody-mediated clearance of an ER-resident aggregate that causes glaucoma.
Ma MT et al.
Pnas Nexus, 2025
Protein misfolding and mitochondrial dysfunction in glaucoma.
Venkatesan A et al.
Frontiers in Cell and Developmental Biology, 2025
Binding Interaction Between Two Mutant Myocilin Olfactomedin Domain Monomers in a Homodimer.
Rahman A et al.
The Journal of Physical Chemistry. B, 2024
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
The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities-A review.
Aboobakar IF et al.
Clinical & Experimental Ophthalmology, 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
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Accumulation of Asn450Tyr mutant myocilin in ER promotes apoptosis of human trabecular meshwork cells.
Yan X et al.
Molecular Vision, 2020
The clinical feature of myocilin Y437H mutation in a Chinese family with primary open-angle glaucoma.
Lei L et al.
The British Journal of Ophthalmology, 2019
Mendelian genes in primary open angle glaucoma.
Sears NC et al.
Experimental Eye Research, 2019
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
Trifunctional High-Throughput Screen Identifies Promising Scaffold To Inhibit Grp94 and Treat Myocilin-Associated Glaucoma.
Huard DJE et al.
Acs Chemical Biology, 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
Structural basis for misfolding in myocilin-associated glaucoma.
Donegan RK et al.
Human Molecular Genetics, 2015
Exploiting the interaction between Grp94 and aggregated myocilin to treat glaucoma.
Stothert AR et al.
Human Molecular Genetics, 2014
Ligands for glaucoma-associated myocilin discovered by a generic binding assay.
Orwig SD et al.
Acs Chemical Biology, 2014
Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma.
Mimivati Z et al.
Molecular Vision, 2014
New mutation in the myocilin gene segregates with juvenile-onset open-angle glaucoma in a Brazilian family.
Braghini CA et al.
Gene, 2013
The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein.
Donegan RK et al.
The Journal of Biological Chemistry, 2012
Glucose-regulated protein 94 triage of mutant myocilin through endoplasmic reticulum-associated degradation subverts a more efficient autophagic clearance mechanism.
Suntharalingam A et al.
The Journal of Biological Chemistry, 2012
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.
Zode GS et al.
The Journal of Clinical Investigation, 2011
The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.
Burns JN et al.
Biochemistry, 2011
Expression of myocilin mutants sensitizes cells to oxidative stress-induced apoptosis: implication for glaucoma pathogenesis.
Joe MK et al.
The American Journal of Pathology, 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
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
Xie X et al.
Molecular Vision, 2008
Myocilin allele-specific glaucoma phenotype database.
Hewitt AW et al.
Human Mutation, 2008
Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin.
Aroca-Aguilar JD et al.
Molecular Vision, 2008
Coiled-coil targeting of myocilin to intracellular membranes.
Stamer WD et al.
Experimental Eye Research, 2006
Temperature sensitive secretion of mutant myocilins.
Vollrath D et al.
Experimental Eye Research, 2006
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
Mutated mouse and human myocilins have similar properties and do not block general secretory pathway.
Malyukova I et al.
Investigative Ophthalmology & Visual Science, 2006
Interaction of myocilin with gamma-synuclein affects its secretion and aggregation.
Surgucheva I et al.
Cellular and Molecular Neurobiology, 2005
Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene.
Aung T et al.
Investigative Ophthalmology & Visual Science, 2005
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004
Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells.
Joe MK et al.
Biochemical and Biophysical Research Communications, 2003
Optimedin: a novel olfactomedin-related protein that interacts with myocilin.
Torrado 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