Anthony L. Cook

The paper uses computational drug repurposing to identify N-acetylglucosamine as a potential therapy for CLN3 Batten disease, showing it reduces lipofuscin burden in cell models.

This study uses a 3D iPSC retina model to show that acid ceramidase deficiency causes sphingolipid metabolism changes and photoreceptor degeneration in CLN3 disease, with therapeutic potential for rhAC.

This study investigates how CLN3 mutations impair phagocytosis and cause photoreceptor degeneration in CLN3 disease using patient-derived cells and a miniswine model.

The paper uses AI to identify genes associated with intraocular pressure by analyzing morphological changes in trabecular meshwork cells after gene knockouts.

This study uses gene knockouts and single-cell RNA sequencing to identify genetic networks contributing to elevated intraocular pressure in glaucoma.

This study shows HDAC6 inhibition with ACY-738 stabilizes microtubules and reduces lower motor neuron degeneration in mSOD1G93A mice, but does not prevent motor function decline.

This study examines CLN3 disease using patient-derived cortical neurons, finding reduced electrophysiological activity and lysosomal alterations.

The paper identifies cell type-specific genetic control of gene expression in fibroblasts and iPSCs using single-cell RNA sequencing and eQTL mapping.

This study evaluates the ability of cerebral organoids derived from APOE-edited human pluripotent stem cells to model Alzheimer's disease features, finding limited APOE effect and high variability in organoid development.

This study develops a self-destructing CRISPR/Cas system for retinal gene editing, showing reduced SpCas9 mRNA and improved safety without compromising on-target efficiency.