Major review: Molecular genetics of primary open-angle glaucoma

Y Liu, RR Allingham - Experimental eye research, 2017 - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), the most common type, is a complex inherited disorder that is …

The interactions of genes, age, and environment in glaucoma pathogenesis

LP Doucette, A Rasnitsyn, M Seifi, MA Walter - Survey of ophthalmology, 2015 - Elsevier
Glaucoma, a progressive degenerative condition that results in the death of retinal ganglion
cells, is one of the leading causes of blindness, affecting millions worldwide. The …

Automated structure-and sequence-based design of proteins for high bacterial expression and stability

A Goldenzweig, M Goldsmith, SE Hill, O Gertman… - Molecular cell, 2016 - cell.com
Upon heterologous overexpression, many proteins misfold or aggregate, thus resulting in
low functional yields. Human acetylcholinesterase (hAChE), an enzyme mediating synaptic …

Structural basis of latrophilin-FLRT interaction

VA Jackson, D del Toro, M Carrasquero, P Roversi… - Structure, 2015 - cell.com
Latrophilins, receptors for spider venom α-latrotoxin, are adhesion type G-protein-coupled
receptors with emerging functions in synapse development. The N-terminal region binds the …

Structural basis for misfolding in myocilin-associated glaucoma

RK Donegan, SE Hill, DM Freeman… - Human molecular …, 2015 - academic.oup.com
Olfactomedin (OLF) domain-containing proteins play roles in fundamental cellular processes
and have been implicated in disorders ranging from glaucoma, cancers and inflammatory …

A molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein response

RRH Anholt, MA Carbone - Trends in molecular medicine, 2013 - cell.com
Primary open angle glaucoma (POAG) is a common late-onset neurodegenerative disease.
Ocular hypertension represents a major risk factor, but POAG etiology remains poorly …

Myocilin misfolding and glaucoma: A 20-year update

EG Saccuzzo, HA Youngblood… - Progress in Retinal and …, 2023 - Elsevier
Mutations in the gene MYOC account for approximately 5% of cases of primary open angle
glaucoma (POAG). MYOC encodes for the protein myocilin, a multimeric secreted …

Targeting the ER-autophagy system in the trabecular meshwork to treat glaucoma

AR Stothert, SN Fontaine, JJ Sabbagh… - Experimental eye …, 2016 - Elsevier
A major drainage network involved in aqueous humor dynamics is the conventional outflow
pathway, which is gated by the trabecular meshwork (TM). The TM acts as a molecular …

Molecular insights into myocilin and its glaucoma-causing misfolded olfactomedin domain variants

RL Lieberman, MT Ma - Accounts of chemical research, 2021 - ACS Publications
Conspectus Numerous human disorders arise due to the inability of a particular protein to
adopt its correct three-dimensional structure in the context of the cell, leading to aggregation …

Competition between inside-out unfolding and pathogenic aggregation in an amyloid-forming β-propeller

EG Saccuzzo, MD Mebrat, HF Scelsi, M Kim… - Nature …, 2024 - nature.com
Studies of folded-to-misfolded transitions using model protein systems reveal a range of
unfolding needed for exposure of amyloid-prone regions for subsequent fibrillization. Here …