ArticleScientific reports2016
CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
- CRISPR-Cas9 Therapeutics in Early Clinical Development: Delivery and Molecular Diagnostics.Cells · 2026Review
- CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential.Cell proliferation · 2025Article
- CRISPR/Cas9 Landscape: Current State and Future Perspectives.International journal of molecular sciences · 2023Review
- CRISPR-Cas9 Direct Fusions for Improved Genome Editing via Enhanced Homologous Recombination.International journal of molecular sciences · 2023Review
- Application progress of CRISPR/Cas9 genome-editing technology in edible fungi.Frontiers in microbiology · 2023Review
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- Review
- Advance trends in targeting homology-directed repair for accurate gene editing: An inclusive review of small molecules and modified CRISPR-Cas9 systems.BioImpacts : BI · 2022Review
- Modification of improved-genome editing via oviductal nucleic acids delivery (i-GONAD)-mediated knock-in in rats.BMC biotechnology · 2021Article
- Review
- Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia.International journal of molecular sciences · 2020Review
- Article
- RS-1 enhances CRISPR-mediated targeted knock-in in bovine embryos.Molecular reproduction and development · 2020Article
- Genome editing technologies to treat rare liver diseases.Translational gastroenterology and hepatology · 2020Review
- The Problem of the Low Rates of CRISPR/Cas9-Mediated Knock-ins in Plants: Approaches and Solutions.International journal of molecular sciences · 2019Review
- Ways of improving precise knock-in by genome-editing technologies.Human genetics · 2019Review
- CRISPR-Cas orthologues and variants: optimizing the repertoire, specificity and delivery of genome engineering tools.Mammalian genome : official journal of the International Mammalian Genome Society · 2017Review
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The CRISPR/Cas9 system is a recently developed genome editing technique. In this study, we used a modified CRISPR system, which employs the fusion of inactive Cas9 (dCas9) and the FokI endonuclease (FokI-dCas9) to correct the most common variant (allele frequency 21.4%) in the phenylalanine hydroxylase (PAH) gene - c.1222C>T (p.Arg408Trp) - as an approach toward curing phenylketonuria (PKU). PKU is the most common inherited diseases in amino acid metabolism. It leads to severe neurological and neuropsychological symptoms if untreated or late diagnosed. Correction of the disease-causing variants could rescue residual PAH activity and restore normal function. Co-expression of a single guide RNA plasmid, a FokI-dCas9-zsGreen1 plasmid, and the presence of a single-stranded oligodeoxynucleotide in PAH_c.1222C>T COS-7 cells - an in vitro model for PKU - corrected the PAH variant and restored PAH activity. Also in this system, the HDR enhancer RS-1 improved correction efficiency. This proof-of-concept indicates the potential of the FokI-dCas9 system for precision medicine, in particular for targeting PKU and other monogenic metabolic diseases.
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