ArticleMolecular therapy : the journal of the American Society of Gene Therapy2016
CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
69 citing papers in PubMed, 103 citations in OpenAlex.
- Review
- In vivo prime editing rescues photoreceptor degeneration in nonsense mutant retinitis pigmentosa.Nature communications · 2025Article
- KIF11 UFMylation Maintains Photoreceptor Cilium Integrity and Retinal Homeostasis.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Various repair events following CRISPR/Cas9-based mutational correction of an infertility-related mutation in mouse embryos.Journal of assisted reproduction and genetics · 2024Article
- Establishment and visual analysis of CBA/J-Pde6bExperimental animals · 2024Article
- Acoustically targeted noninvasive gene therapy in large brain volumes.Gene therapy · 2024Article
- Does Background Matter? A Comparative Characterization of Mouse Models of Autosomal Retinitis Pigmentosa rd1 and Pde6b-KO.International journal of molecular sciences · 2023Article
- Unleashing the potential of CRISPR multiplexing: Harnessing Cas12 and Cas13 for precise gene modulation in eye diseases.Vision research · 2023Review
- Therapeutic applications of CRISPR/Cas9 gene editing technology for the treatment of ocular diseases.The FEBS journal · 2023Review
- Review
- The application and progression of CRISPR/Cas9 technology in ophthalmological diseases.Eye (London, England) · 2023Review
- miRNA-27a is essential for bone remodeling by modulating p62-mediated osteoclast signaling.eLife · 2023Article
- Identification of RPGR ORF15 mutation for X-linked retinitis pigmentosa in a large Chinese family and in vitro correction with prime editor.Gene therapy · 2023Article
- Morphological and Functional Comparison of Mice Models for Retinitis Pigmentosa.Advances in experimental medicine and biology · 2023Review
- CRISPR-Cas systems: role in cellular processes beyond adaptive immunity.Folia microbiologica · 2022Review
- Review
- Improving Precise Genome Editing Using Donor DNA/gRNA Hybrid Duplex Generated by Complementary Bases.Biomolecules · 2022Article
- CRISPR/Cas systems usher in a new era of disease treatment and diagnosis.Molecular biomedicine · 2022Review
- Implications of Neural Plasticity in Retinal Prosthesis.Investigative ophthalmology & visual science · 2022Article
- Targeting the HDAC6-Cilium Axis Ameliorates the Pathological Changes Associated with Retinopathy of Prematurity.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2022Article
9 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
Massive parallel sequencing enables identification of numerous genetic variants in mutant organisms, but determining pathogenicity of any one mutation can be daunting. The most commonly studied preclinical model of retinitis pigmentosa called the "rodless" (rd1) mouse is homozygous for two mutations: a nonsense point mutation (Y347X) and an intronic insertion of a leukemia virus (Xmv-28). Distinguishing which mutation causes retinal degeneration is still under debate nearly a century after the discovery of this model organism. Here, we performed gene editing using the CRISPR/Cas9 system and demonstrated that the Y347X mutation is the causative variant of disease. Genome editing in the first generation produced animals that were mosaic for the corrected allele but still showed neurofunction preservation despite low repair frequencies. Furthermore, second-generation CRISPR-repaired mice showed an even more robust rescue and amelioration of the disease. This predicts excellent outcomes for gene editing in diseased human tissue, as Pde6b, the mutated gene in rd1 mice, has an orthologous intron-exon relationship comparable with the human PDE6B gene. Not only do these findings resolve the debate surrounding the source of neurodegeneration in the rd1 model, but they also provide the first example of homology-directed recombination-mediated gene correction in the visual system.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.