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

Stargardt disease type 1 (STGD1) is the most common hereditary form of maculopathy and remains untreatable. STGD1 is caused by biallelic variants in the ABCA4 gene, which encodes the ATP-binding cassette (type 4) protein (ABCA4) that clears toxic byproducts of the visual cycle. The c.5461-10T>C p...

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Detalles Bibliográficos
Autores principales: Kaltak, Melita, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9999166/
https://www.ncbi.nlm.nih.gov/pubmed/36910710
http://dx.doi.org/10.1016/j.omtn.2023.02.020

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