Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease

Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease

Abstract Background Stargardt disease type 1 (STGD1) is a progressive retinal disorder caused by bi-allelic variants in the ABCA4 gene. A recurrent variant at the exon-intron junction of exon 6, c.768G>T, causes a 35-nt elongation of exon 6 that leads to premature termination of protein synthesis...

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Main Authors: Dyah W. Karjosukarso, Femke Bukkems, Lonneke Duijkers, Tomasz Z. Tomkiewicz, Julia Kiefmann, Andrei Sarlea, Sander Bervoets, Irene Vázquez-Domínguez, Laurie L. Molday, Robert S. Molday, Mihai G. Netea, Carel B. Hoyng, Alejandro Garanto, Rob W. J. Collin
Format: Article
Language:English
Published: Nature Portfolio 2025-01-01
Series:Communications Medicine
Online Access:https://doi.org/10.1038/s43856-024-00712-7
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