Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis-Reference-Cited by-同舟云学术

Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis

Published:2022-10 Issue:10 Volume:17 Page:2187-2202
ISSN:2213-6711
Container-title:Stem Cell Reports
language:en
Short-container-title:Stem Cell Reports

Author:

Leung Amy,Sacristan-Reviriego Almudena,Perdigão Pedro R.L.,Sai Hali,Georgiou Michalis,Kalitzeos Angelos,Carr Amanda-Jayne F.,Coffey Peter J.,Michaelides Michel,Bainbridge James,Cheetham Michael E.,van der Spuy Jacqueline

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,Genetics,Biochemistry

Reference51 articles.

1. Ataluren treatment of patients with nonsense mutation dystrophinopathy;Bushby;Muscle Nerve,2014

2. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy;Campbell;J. Comp. Eff. Res.,2020

3. Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons;Dabrowski;Mol. Med.,2018

4. The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations;Dharmaraj;Arch. Ophthalmol.,2004

5. PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model;Du;Proc. Natl. Acad. Sci. USA,2008

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Application of eye organoids in the study of eye diseases;Experimental Eye Research;2024-10

2. Features of generation and differentiation of induced pluripotent stem cells into retinal cells for modeling human hereditary diseases;Genes & Cells;2024-07-01

3. Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities;International Journal of Molecular Sciences;2024-05-21

4. Pluripotent stem cell-derived models of retinal disease: Elucidating pathogenesis, evaluating novel treatments, and estimating toxicity;Progress in Retinal and Eye Research;2024-05

5. Effective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4;Molecular Therapy - Nucleic Acids;2024-03