Article

Structural basis for anomalous cellular trafficking behavior of glaucoma-associated A427T mutant myocilin

2025-02-27

Abstract excerpt

Familial mutations in myocilin cause vision loss in glaucoma due to misfolding and a toxic gain of function in a senescent cell type in the anterior eye. Here we characterize the cellular behavior and structure of the myocilin (myocilin A427T ) mutant, of uncertain pathogenicity. Our characterization of A427T demonstrates that even mutations that minimally perturb myocilin structure and stability can present chal...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: c04ca6e5-6991-5d71-a33d-369226842c45
DOI: 10.1101/2025.02.26.640437

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Structural basis for anomalous cellular trafficking behavior of glaucoma-associated A427T mutant myocilinDOI 10.1101/2025.02.26.640437Read

Structure and misfolding of the flexible tripartite coiled coil domain of glaucoma-associated myocilinSemantic proximity Read

Serine to proline mutation at position 341 of MYOC impairs trabecular meshwork function by causing autophagy deregulationSemantic proximity Read

Serine to proline mutation at position 341 of MYOC impairs trabecular meshwork function by causing autophagy deregulationSemantic proximity Read

Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data.Semantic proximity Read

Calcium dysregulation potentiates wild-type myocilin misfolding: implications for glaucoma pathogenesis.Semantic proximity Read

Reversal of mutant myocilin non-secretion and cell killing: implications for glaucomaSemantic proximity Read

Binding of a glaucoma-associated myocilin variant to the αB-crystallin chaperone impedes protein clearance in trabecular meshwork cellsSemantic proximity Read

The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.Semantic proximity Read

Temperature sensitive secretion of mutant myocilins.Semantic proximity Read

Structural basis for misfolding in myocilin-associated glaucoma.Semantic proximity Read

Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells.Semantic proximity Read

Inefficient processing of an olfactomedin-deficient myocilin mutant: potential physiological relevance to glaucoma.Semantic proximity Read