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ABCA4 Deletion and its effect on Photoreceptor Function

ABSTRACT: ABCA4 is an ATP-binding cassette transporter expressed in photoreceptor cells, where it plays a critical role in the visual cycle by facilitating the clearance of all-trans-retinal derivatives from photoreceptor outer segment discs. Mutations in ABCA4 are implicated in inherited retinal degenerative diseases such as Stargardt disease, leading to the accumulation of toxic bisretinoids and progressive photoreceptor and retinal pigment epithelium (RPE) dysfunction. Although the role of ABCA4 in the visual cycle is well established, emerging studies have begun to explore broader implications of ABCA4 dysfunction on retinal homeostasis and disease mechanisms. In the present study, we utilized Abca4⁻/⁻ mice to investigate the consequences of ABCA4 loss in photoreceptors and its impact on retinal structure and function using translating ribosome affinity purification (TRAP) followed by next-generation sequencing of photoreceptors RNA.

ORGANISM(S): Mus musculus

PROVIDER: GSE298433 | GEO | 2026/06/19

REPOSITORIES: GEO

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