Catherine Argyriou

Allele-specific correction of dominant Best vitelliform macular dystrophy in patient-derived retinal pigment epithelium

This study corrects a dominant BEST1 mutation in patient-derived RPE cells using base editing, showing improved cellular function and transcriptome normalization.

Clinically relevant AAV8-PEX1 gene therapy preserves retinal integrity and function long-term in a murine model of Zellweger spectrum disorder

This study evaluates a gene therapy for Zellweger spectrum disorder, showing long-term preservation of retinal function and structure in mice.

Longitudinal study of liver disease progression in the PEX1-Gly844Asp mouse model of mild Zellweger Spectrum Disorder

This study tracks liver disease progression in PEX1-G844D mice, identifying peroxisomal dysfunction and metabolic changes that contribute to hepatosteatosis, inflammation, fibrosis, and cancer.

Geographic characterization of RPE structure and lipid changes in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder.

This study characterizes RPE structure and lipid changes in a ZSD mouse model, identifying lipid alterations that precede and accompany retinal degeneration.