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
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
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP et al.
Human Mutation, 2022
Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.
Cyrta J et al.
The Journal of Pathology, 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
Prevalence of MYOC risk variants for glaucoma in different populations.
Liuska PJ et al.
Acta Ophthalmologica, 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
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Accumulation of Asn450Tyr mutant myocilin in ER promotes apoptosis of human trabecular meshwork cells.
Yan X et al.
Molecular Vision, 2020
Differential Misfolding Properties of Glaucoma-Associated Olfactomedin Domains from Humans and Mice.
Patterson-Orazem AC et al.
Biochemistry, 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
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
Glaucomatous MYOC mutations activate the IL-1/NF-κB inflammatory stress response and the glaucoma marker SELE in trabecular meshwork cells.
Itakura T et al.
Molecular Vision, 2015
The glaucoma-associated olfactomedin domain of myocilin forms polymorphic fibrils that are constrained by partial unfolding and peptide sequence.
Hill SE et al.
Journal of Molecular Biology, 2014
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Millá E et al.
Molecular Vision, 2013
The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein.
Donegan RK et al.
The Journal of Biological Chemistry, 2012
Comprehensive analysis of myocilin variants in east Indian POAG patients.
Banerjee D 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
Myocilin variants in Indian patients with open-angle glaucoma.
Bhattacharjee A et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2007
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
Founder TIGR/myocilin mutations for glaucoma in the Québec population.
Faucher M et al.
Human Molecular Genetics, 2002