Associated Papers
Single-Cell Transcriptomics on PRPF31-Mutated Retinal Organoids Reveal Early Müller Glial Activation and Progressive Photoreceptor Degeneration.
Bellapianta A et al.
Biomedicines, 2025
Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing.
Banik P et al.
Cellular and Molecular Life Sciences : Cmls, 2025
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.
Lee YJ et al.
Stem Cell Reviews and Reports, 2025
Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models.
McDonald A et al.
International Journal of Molecular Sciences, 2024
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Liang Y et al.
Stem Cell Research & Therapy, 2023
Retinal organoids provide unique insights into molecular signatures of inherited retinal disease throughout retinogenesis.
Watson A et al.
Journal of Anatomy, 2023
Modeling Retinitis Pigmentosa with Patient-Derived iPSCs.
Leong YC et al.
Advances in Experimental Medicine and Biology, 2023
Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells.
Georgiou M et al.
Clinical and Translational Medicine, 2022
Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene.
Ali-Nasser T et al.
Molecular Vision, 2022
Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.
Yang C et al.
Frontiers in Cell and Developmental Biology, 2021
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G et al.
Experimental Eye Research, 2020
Deciphering retinal diseases through the generation of three dimensional stem cell-derived organoids: Concise Review.
Artero Castro A et al.
Stem Cells (dayton, Ohio), 2019
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.
Buskin A et al.
Nature Communications, 2018
A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.
Zheng Y et al.
International Journal of Ophthalmology, 2018
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G et al.
Nature Cell Biology, 2015
CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
Venturini G et al.
Plos Genetics, 2012
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
Audo I et al.
Bmc Medical Genetics, 2010
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
Rio Frio T et al.
Human Molecular Genetics, 2008
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.
Rio Frio T et al.
The Journal of Clinical Investigation, 2008