Associated Papers
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project.
Ying D et al.
Human Genetics, 2025
Structural basis for anomalous cellular trafficking behavior of glaucoma-associated A427T mutant myocilin.
Hill KR et al.
Biorxiv : the Preprint Server for Biology, 2025
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
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
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
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
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
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
Myocilin mutations in black South Africans with POAG.
Whigham BT et al.
Molecular Vision, 2011
Glaucoma-associated myocilin: a better understanding but much more to learn.
Resch ZT et al.
Experimental Eye Research, 2009
Temperature sensitive secretion of mutant myocilins.
Vollrath D et al.
Experimental Eye Research, 2006
Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation.
Melki R et al.
Human Mutation, 2003
Single-nucleotide polymorphisms and glaucoma severity.
Bunce C et al.
American Journal of Human Genetics, 2003
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
Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.
Colomb E 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
Childhood-onset primary open angle glaucoma in a Canadian kindred: clinical and molecular genetic features.
Damji KF et al.
Ophthalmic Genetics, 1999
A cellular assay distinguishes normal and mutant TIGR/myocilin protein.
Zhou Z et al.
Human Molecular Genetics, 1999
Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France.
Brézin AP et al.
American Journal of Medical Genetics, 1998
Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma.
Adam MF et al.
Human Molecular Genetics, 1997