Article

Loss of ABCA4 from photoreceptor discs triggers changes in glial cell homeostasis

2026-04-15

Abstract excerpt

Loss-of-function mutations in the ABCA4 gene cause Stargardt disease (STGD1), the most common inherited macular dystrophy leading to progressive central vision loss. Here, we generated hiPSC-derived retinal organoids harboring a premature stop codon in exon-24 of ABCA4 to evaluate the impact of this mutation on mRNA and protein levels in a human model. Immunofluorescence analysis revealed the absence of ABCA4 pr...

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Literature Corpus work: 9a82f327-1c32-56d8-9de4-ed8af0cd6e7e
DOI: 10.64898/2026.04.13.718110

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