Proposing Zebrafish as a Model for Stargardt Disease.

• Tác giả: Qi Lu, Alison L Reynolds
• Ngôn ngữ: eng
• Ký hiệu phân loại: 972.8202 *Central America
• Thông tin xuất bản: United States : Advances in experimental medicine and biology , 2025
• Bộ sưu tập: NCBI
• ID: 50049

Tóm tắt

Stargardt disease (STGD1) is an inherited juvenile macular degeneration caused by mutations in the ATP-binding cassette subfamily A member 4 gene (ABCA4), a flippase located in the photoreceptor outer segment. ABCA4 mutations cause the buildup of a toxic byproduct in the retina called lipofuscin resulting in the death of photoreceptors by ferroptosis. Mammalian disease models (e.g., mouse Abca4