Catherine Argyriou, PhD, MS

My main research goal is to better understand the mechanisms of genetic diseases and to develop gene-based therapies to treat them, with a focus on peroxisomal disorders. Of particular interest are diseases that can affect multiple systems throughout the body, such as diseases that cause vision loss in conjunction with other organ involvement.

• Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders. Mol Genet Metab. 2025 May; 145(1):109080.. View in PubMed
• Try before you buy: Empirical comparison of base editing approaches. Mol Ther. 2025 Apr 02; 33(4):1310-1311.. View in PubMed
• Spatial characterization of RPE structure and lipids in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder. J Lipid Res. 2025 Apr; 66(4):100771.. View in PubMed
• Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling. Genet Med Open. 2025; 3:103431.. View in PubMed
• Zellweger Spectrum Disorder: Ophthalmic Findings from a New Natural History Study Cohort and Scoping Literature Review. Ophthalmology. 2023 12; 130(12):1313-1326.. View in PubMed
• Peroxisomes : novel findings and future directions. Histochem Cell Biol. 2023 May; 159(5):379-387.. View in PubMed
• Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series. Neurogenetics. 2022 04; 23(2):115-127.. View in PubMed
• AAV-mediated PEX1 gene augmentation improves visual function in the PEX1-Gly844Asp mouse model for mild Zellweger spectrum disorder. Mol Ther Methods Clin Dev. 2021 Dec 10; 23:225-240.. View in PubMed
• The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder. EMBO Rep. 2021 10 05; 22(10):e51991.. View in PubMed
• A longitudinal study of retinopathy in the PEX1-Gly844Asp mouse model for mild Zellweger Spectrum Disorder. Exp Eye Res. 2019 09; 186:107713.. View in PubMed
• Zellweger spectrum disorder patient-derived fibroblasts with the PEX1-Gly843Asp allele recover peroxisome functions in response to flavonoids. J Cell Biochem. 2019 03; 120(3):3243-3258.. View in PubMed
• Peroxisome biogenesis disorders. Transl Sci Rare Dis. 2016 Nov 07; 1(2):111-144.. View in PubMed
• An enhanced immune response of Mclk1⁺/⁻ mutant mice is associated with partial protection from fibrosis, cancer and the development of biomarkers of aging. PLoS One. 2012; 7(11):e49606.. View in PubMed

• Hacia, Joseph
• Nagiel, Aaron
• Shahidi, Mahnaz
• Humayun, Mark
• Papadopoulos, Vassilios
• Warren, Mikako