Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C-Reference-Cited by-同舟云学术

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

Published:2023-03 Issue: Volume:31 Page:674-688
ISSN:2162-2531
Container-title:Molecular Therapy - Nucleic Acids
language:en
Short-container-title:Molecular Therapy - Nucleic Acids

Author:

Kaltak Melita^ORCID,de Bruijn Petra,Piccolo Davide,Lee Sang-Eun,Dulla Kalyan,Hoogenboezem Thomas,Beumer Wouter,Webster Andrew R.,Collin Rob W.J.,Cheetham Michael E.,Platenburg Gerard,Swildens Jim^ORCID

Funder

Wellcome Trust

Fight for Sight

European Union

Publisher

Elsevier BV

Subject

Drug Discovery,Molecular Medicine

Reference63 articles.

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3. ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer;Quazi;Nat. Commun.,2012

4. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice;Weng;Cell,1999

5. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR;Cremers;Hum. Mol. Genet.,1998

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2. Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance;Ophthalmologica;2024-07-23

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4. Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease;Nucleic Acid Therapeutics;2024-04-01

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