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Article

Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.

Molecular therapy : the journal of the American Society of Gene Therapy - 6 Mar 2024

Suárez-Herrera Nuria, Riswick Iris B, Vázquez-Domínguez Irene, Duijkers Lonneke, Karjosukarso Dyah W, Piccolo Davide, Bauwens Miriam, De Baere Elfride, Cheetham Michael E, Garanto Alejandro, Collin Rob W J

Abstract excerpt

The high allelic heterogeneity in Stargardt disease (STGD1) complicates the design of intervention strategies. A significant proportion of pathogenic intronic ABCA4 variants alters the pre-mRNA splicing process. Antisense oligonucleotides (AONs) are an attractive yet mutation-specific therapeutic strategy to restore these splicing defects. In this study, we experimentally assessed the potential of a splicing...

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Share to ATP-Binding Cassette Transporters
Share to ABCA4 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38243599
DOI: 10.1016/j.ymthe.2024.01.019
PMCID: PMC10928313

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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