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Article

Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments.

Disease models & mechanisms - 1 Jan 2025

Willoughby John J, Jensen Abbie M

Abstract excerpt

Stargardt disease (STGD), the leading cause of inherited childhood blindness, is primarily caused by mutations in the ABCA4 gene; yet, the underlying mechanisms of photoreceptor degeneration remain elusive, partly due to limitations in existing animal disease models. To expand our understanding, we mutated the human ABCA4 paralogues abca4a and abca4b in zebrafish, which has a cone-rich retina. Our study unveiled...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39610324
DOI: 10.1242/dmm.052052
PMCID: PMC11744051

Genes

ABCA4
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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