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 …

Advances with long non-coding RNAs in Alzheimer's disease as peripheral biomarker

M Garofalo, C Pandini, D Sproviero, O Pansarasa… - Genes, 2021 - mdpi.com
One of the most compelling needs in the study of Alzheimer's disease (AD) is the
characterization of cognitive decline peripheral biomarkers. In this context, the theme of …

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 …

A blueprint for academic laboratories to produce SARS-CoV-2 quantitative RT-PCR test kits

SJ Mascuch, S Fakhretaha-Aval, JC Bowman… - Journal of Biological …, 2020 - ASBMB
Widespread testing for the presence of the novel coronavirus severe acute respiratory
syndrome coronavirus 2 (SARS-CoV-2) in individuals remains vital for controlling the COVID …

Altered expression of long non-coding RNAs in peripheral blood mononuclear cells of patients with Alzheimer's disease

S Kurt, AG Tomatir, PE Tokgun, C Oncel - Molecular neurobiology, 2020 - Springer
Long non-coding RNAs (lncRNAs) are involved in many neurological conditions, and
neurodegenerative disorders including Alzheimer's disease (AD) regulate gene expression …

Structure and misfolding of the flexible tripartite coiled-coil domain of glaucoma-associated myocilin

SE Hill, E Nguyen, RK Donegan, AC Patterson-Orazem… - Structure, 2017 - cell.com
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 …

Calcium dysregulation potentiates wild-type myocilin misfolding: implications for glaucoma pathogenesis

EG Saccuzzo, MD Martin, KR Hill, MT Ma, Y Ku… - JBIC Journal of …, 2022 - Springer
Myocilin is secreted from trabecular meshwork cells to an eponymous extracellular matrix
that is critical for maintaining intraocular pressure. Missense mutations found in the myocilin …

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

JM Lynch, B Li, P Katoli, C Xiang, B Leehy… - Journal of Biological …, 2018 - ASBMB
Myocilin (MYOC) was discovered more than 20 years ago and is the gene whose mutations
are most commonly observed in individuals with glaucoma. Despite extensive research …

Stable calcium-free myocilin olfactomedin domain variants reveal challenges in differentiating between benign and glaucoma-causing mutations

SE Hill, MS Kwon, MD Martin, A Suntharalingam… - Journal of Biological …, 2019 - ASBMB
Nonsynonymous gene mutations can be beneficial, neutral, or detrimental to the stability,
structure, and biological function of the encoded protein, but the effects of these mutations …

Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models

B Zhou, X Lin, Z Li, Y Yao, J Yang, Y Zhu - Frontiers in Genetics, 2022 - frontiersin.org
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 …