Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs

Congenital aniridia is a rare, pan-ocular disease causing severe sight loss, with only symptomatic intervention offered to patients. Approximately 40% of aniridia patients present with heterozygous nonsense variants in PAX6, resulting in haploinsufficiency. Translational readthrough-inducing drugs (...

Descripción completa

Detalles Bibliográficos
Autores principales: Lima Cunha, Dulce, Sarkar, Hajrah, Eintracht, Jonathan, Harding, Philippa, Zhou, Jo Huiqing, Moosajee, Mariya
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/PMC10362734/
https://www.ncbi.nlm.nih.gov/pubmed/37483273
http://dx.doi.org/10.1016/j.omtn.2023.06.016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362734/
https://www.ncbi.nlm.nih.gov/pubmed/37483273
http://dx.doi.org/10.1016/j.omtn.2023.06.016

Ejemplares similares