Catherine Argyriou

Assistant Professor of Research Ophthalmology

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Publications

  • 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