Associated Papers
Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.
Nagel-Wolfrum K et al.
Molecular Aspects of Medicine, 2026
Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids.
Leung A et al.
Molecular Therapy. Nucleic Acids, 2025
Preventing vision loss in a mouse model of Leber Congenital Amaurosis by engineered tRNA.
Akyuz E et al.
Biorxiv : the Preprint Server for Biology, 2025
Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.
Xu P et al.
Journal of Translational Medicine, 2024
Nonviral base editing of KCNJ13 mutation preserves vision in a model of inherited retinal channelopathy.
Kabra M et al.
The Journal of Clinical Investigation, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
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Inward rectifier potassium (Kir) channels in the retina: living our vision.
Beverley KM et al.
American Journal of Physiology. Cell Physiology, 2022
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
The Use of Induced Pluripotent Stem Cells as a Model for Developmental Eye Disorders.
Eintracht J et al.
Frontiers in Cellular Neuroscience, 2020
Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.
Toms M et al.
Experimental Eye Research, 2019
Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness.
Shahi PK et al.
American Journal of Human Genetics, 2019
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
Pattnaik BR et al.
Human Mutation, 2015
The advancements in precision medicine for Leber congenital amaurosis: Breakthroughs from genetic diagnosis to therapy.
Zhang P et al.
Survey of Ophthalmology, 0
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