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
Competition between inside-out unfolding and pathogenic aggregation in an amyloid-forming β-propeller.
Saccuzzo EG et al.
Nature Communications, 2024
Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma.
Mullie GA et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2023
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
Non-Mendelian inheritance during inbreeding of Cav3.2 and Cav2.3 deficient mice.
Alpdogan S et al.
Scientific Reports, 2020
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Binding of a glaucoma-associated myocilin variant to the αB-crystallin chaperone impedes protein clearance in trabecular meshwork cells.
Lynch JM et al.
The Journal of Biological Chemistry, 2018
Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients.
Svidnicki PV et al.
Ophthalmic Genetics, 2018
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 vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology.
Janssen SF et al.
Progress in Retinal and Eye Research, 2013
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
Amyloid fibril formation by the glaucoma-associated olfactomedin domain of myocilin.
Orwig SD et al.
Journal of Molecular Biology, 2012
Myocilin, a component of a membrane-associated protein complex driven by a homologous Q-SNARE domain.
Dismuke WM et al.
Biochemistry, 2012
Cystatin a, a potential common link for mutant myocilin causative glaucoma.
Kennedy KD et al.
Plos One, 2012
Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma.
Young TK et al.
Molecular Vision, 2012
The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.
Burns JN et al.
Biochemistry, 2011
Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones.
Burns JN et al.
Acs Chemical Biology, 2010
The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.
Avisar I et al.
Molecular Vision, 2009
The genetics of primary open-angle glaucoma: a review.
Allingham RR 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
Complex genetics of glaucoma: defects in CYP1B1, and not MYOC, cause pathogenesis in an early-onset POAG patient with double variants at both loci.
Acharya M et al.
Journal of Genetics, 2008
Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation.
Iliev ME et al.
Eye (london, England), 2008
Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village.
Wirtz MK 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
Heterologous expression of wildtype and mutant myocilin in High Five insect cells shows comparable effects to cultivated trabecular meshwork cells.
Oezbey S et al.
Biomolecular Engineering, 2007
Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.
Wirtz MK et al.
American Journal of Ophthalmology, 2007
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
A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases.
Hewitt AW et al.
American Journal of Ophthalmology, 2006
Identification of flotillin-1 as a protein interacting with myocilin: implications for the pathogenesis of primary open-angle glaucoma.
Joe MK et al.
Biochemical and Biophysical Research Communications, 2005
Mechanisms of non-Mendelian inheritance in genetic disease.
Van Heyningen V et al.
Human Molecular Genetics, 2004
Intracellular sequestration of hetero-oligomers formed by wild-type and glaucoma-causing myocilin mutants.
Gobeil S et al.
Investigative Ophthalmology & Visual Science, 2004
Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma.
Liu Y et al.
Human Molecular Genetics, 2004
Genetic dissection of myocilin glaucoma.
Gong G et al.
Human Molecular Genetics, 2004