Associated Papers
PDE6A-Associated Retinitis Pigmentosa, Clinical Characteristics, Genetics, and Natural History.
Hashem SA et al.
Ophthalmology. Retina, 2025
All-in-one AAV-mediated Nrl gene inactivation rescues retinal degeneration in Pde6a mice.
Liu Z et al.
Jci Insight, 2024
Efficient Rescue of Retinal Degeneration in Pde6a Mice by Engineered Base Editing and Prime Editing.
Liu Z et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa.
Kuehlewein L et al.
Investigative Ophthalmology & Visual Science, 2022
Replenishment of TCA cycle intermediates provides photoreceptor resilience against neurodegeneration during progression of retinitis pigmentosa.
Rowe AA et al.
Jci Insight, 2021
A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.
Hayashi T et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2021
New focus on regulation of the rod photoreceptor phosphodiesterase.
Gulati S et al.
Current Opinion in Structural Biology, 2021
Loss of Pde6a Induces Rod Outer Segment Shrinkage and Visual Alterations in pde6aQ70X Mutant Zebrafish, a Relevant Model of Retinal Dystrophy.
Crouzier L et al.
Frontiers in Cell and Developmental Biology, 2021
Molecular Surgery: Proteomics of a Rare Genetic Disease Gives Insight into Common Causes of Blindness.
Velez G et al.
Iscience, 2020
Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration.
Wert KJ et al.
Ebiomedicine, 2020
Cellular mechanisms of hereditary photoreceptor degeneration - Focus on cGMP.
Power M et al.
Progress in Retinal and Eye Research, 2020
Advancing Gene Therapy for PDE6A Retinitis Pigmentosa.
Petersen-Jones SM et al.
Advances in Experimental Medicine and Biology, 2019
Genetic Rescue Reverses Microglial Activation in Preclinical Models of Retinitis Pigmentosa.
Zhang L et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2018
Gene Therapy Successfully Delays Degeneration in a Mouse Model of PDE6A-Linked Retinitis Pigmentosa (RP43).
Schön C et al.
Human Gene Therapy, 2017
Efficacy of PARP inhibition in Pde6a mutant mouse models for retinitis pigmentosa depends on the quality and composition of individual human mutations.
Jiao K et al.
Cell Death Discovery, 2016
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
Sothilingam V et al.
Human Molecular Genetics, 2015
Mid-stage intervention achieves similar efficacy as conventional early-stage treatment using gene therapy in a pre-clinical model of retinitis pigmentosa.
Wert KJ et al.
Human Molecular Genetics, 2014
Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing.
Muradov H et al.
Vision Research, 2012
Naturally occurring animal models with outer retina phenotypes.
Baehr W et al.
Vision Research, 2009
New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene.
Sakamoto K et al.
Human Molecular Genetics, 2009