Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24238
Abstract: Rare variants of the olfactomedin domain of myocilin are considered causative for inherited, early‐onset open‐angle glaucoma, with a misfolding toxic gain‐of‐function pathogenic mechanism detailed by 20 years of laboratory research. Myocilin variants are documented in… read more here.
Keywords: myocilin; genetics; glaucoma; pathogenicity ... See more keywords
Epitope mapping of commercial antibodies that detect myocilin.
Sign Up to like & getrecommendations! Published in 2018 at "Experimental eye research"
DOI: 10.1016/j.exer.2018.05.002
Abstract: The presence of myocilin is often used in the process of validating trabecular meshwork (TM) cells and eye tissues, but the antibody reagents used for detection are poorly characterized. Indeed, for over a century, researchers… read more here.
Keywords: epitope mapping; myocilin; mapping commercial; detect myocilin ... See more keywords
Structure and Misfolding of the Flexible Tripartite Coiled-Coil Domain of Glaucoma-Associated Myocilin.
Sign Up to like & getrecommendations! Published in 2017 at "Structure"
DOI: 10.1016/j.str.2017.09.008
Abstract: Glaucoma-associated myocilin is a member of the olfactomedins, a protein family involved in neuronal development and human diseases. Molecular studies of the myocilin N-terminal coiled coil demonstrate a unique tripartite architecture: a Y-shaped parallel dimer-of-dimers… read more here.
Keywords: myocilin; associated myocilin; glaucoma associated; structure ... See more keywords
Trifunctional High-Throughput Screen Identifies Promising Scaffold To Inhibit Grp94 and Treat Myocilin-Associated Glaucoma.
Sign Up to like & getrecommendations! Published in 2018 at "ACS chemical biology"
DOI: 10.1021/acschembio.7b01083
Abstract: Gain-of-function mutations within the olfactomedin (OLF) domain of myocilin result in its toxic intracellular accumulation and hasten the onset of open-angle glaucoma. The absence of myocilin does not cause disease; therefore, strategies aimed at eliminating… read more here.
Keywords: myocilin; associated glaucoma; biology; myocilin associated ... See more keywords
Mutant myocilin impacts sarcomere ultrastructure in mouse gastrocnemius muscle
Sign Up to like & getrecommendations! Published in 2018 at "PLoS ONE"
DOI: 10.1371/journal.pone.0206801
Abstract: Myocilin (MYOC) is the gene with mutations most common in glaucoma. In the eye, MYOC is in trabecular meshwork, ciliary body, and retina. Other tissues with high MYOC transcript levels are skeletal muscle and heart.… read more here.
Keywords: gastrocnemius muscle; myocilin; muscle; mutant myoc ... See more keywords
Myocilin Gene Mutation Induced Autophagy Activation Causes Dysfunction of Trabecular Meshwork Cells
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.900777
Abstract: Trabecular meshwork dysfunction is the main cause of primary open angle glaucoma (POAG) associated with elevated intraocular pressure (IOP). Mutant myocilin causes glaucoma mainly via elevating IOP. Previously we have found that accumulated Asn 450… read more here.
Keywords: meshwork cells; mutant myocilin; trabecular meshwork; myocilin ... See more keywords
Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1019208
Abstract: MYOC is a common pathogenic gene for primary open-angle glaucoma and encodes the protein named myocilin. Multiple MYOC variations have been found, with different clinical significance. However, the pathogenesis of glaucoma induced by MYOC mutations… read more here.
Keywords: structure function; pathogenicity; secretion; analysis ... See more keywords