Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE

Peters, Florian; Ebner, Lynn J A; Atac, David; Maggi, Jordi; Berger, Wolfgang; den Hollander, Anneke I; Grimm, Christian

doi:10.5167/uzh-219547

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Peters, F., Ebner, L. J. A., Atac, D., Maggi, J., Berger, W., den Hollander, A. I., & Grimm, C. (2022). Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE. International Journal of Molecular Sciences, 23, 3194. https://doi.org/10.3390/ijms23063194

Abstract

Age-related macular degeneration (AMD) is a progressive disease of the macula characterized by atrophy of the retinal pigment epithelium (RPE) and photoreceptor degeneration, leading to severe vision loss at advanced stages in the elderly population. Impaired reverse cholesterol transport (RCT) as well as intracellular lipid accumulation in the RPE are implicated in AMD pathogenesis. Here, we focus on ATP-binding cassette transporter A1 (ABCA1), a major cholesterol transport protein in the RPE, and analyze conditions that lead to ABCA