ArticleNature communications2023
Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
What it found
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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
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Who cites it
37 citing papers in PubMed, 43 citations in OpenAlex.
- Amelioration of the neurological phenotype in PKU mouse model emphasizes the potential of base editing for metabolic diseases.Molecular therapy. Advances · 2026Article
- Improved specificity and efficiency of in vivo adenine base editing therapies with hybrid guide RNAs.Nature biomedical engineering · 2026Article
- Targeting Mutant Phenylalanine Hydroxylase With Pyrimidine-Triazole Conjugates: A Primary Framework for Candidate Chaperone-Based Strategies in Phenylketonuria.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- sgRNA amount is a limiting factor in adenine base editing using RNA LNPs.Molecular therapy. Nucleic acids · 2026Article
- Article
- Non-viral delivery of genome-editing tools for treatment of genetic disorders.Acta pharmaceutica Sinica. B · 2026Review
- Natively entangled proteins are linked to human disease and pathogenic mutations likely due to a greater misfolding propensity.bioRxiv : the preprint server for biology · 2026Article
- CRISPR-Cas9 Therapeutics in Early Clinical Development: Delivery and Molecular Diagnostics.Cells · 2026Review
- Correction of a recurrent pathogenic variant in methylmalonic acidemia using adenine base editing.bioRxiv : the preprint server for biology · 2026Article
- Balancing personalized medicine and scalability in base editing for phenylketonuria.Molecular therapy. Nucleic acids · 2026Article
- Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components.Small methods · 2026Review
- Systemic mRNA-LNP administration in fetuses improves survival in a mouse model of spinal muscular atrophy.Molecular therapy. Methods & clinical development · 2025Article
- Liver-directed base editing ofMolecular therapy. Nucleic acids · 2025Article
- Rational design and applications of piperazine and cyclohexane ionizable lipids for PKU and SSADH deficiency.Molecular therapy. Nucleic acids · 2025Article
- Base editing strategies forMolecular therapy. Nucleic acids · 2025Article
- Therapeutic effect of histone deacetylase 6 inhibitor for a mouse model of phenylketonuria.Scientific reports · 2025Article
- LNP-mediated in vivo base editing corrects Agxt to cure primary hyperoxaluria type 1.Clinical and translational medicine · 2025Article
- Synthetic closed-loop gene circuit for phenylalanine regulation.Nucleic acids research · 2025Article
- Treatment of a metabolic liver disease in mice with a transient prime editing approach.Nature biomedical engineering · 2025Article
- Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
Abstract
Phenylketonuria (PKU), an autosomal recessive disorder caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene, results in the accumulation of blood phenylalanine (Phe) to neurotoxic levels. Current dietary and medical treatments are chronic and reduce, rather than normalize, blood Phe levels. Among the most frequently occurring PAH variants in PKU patients is the P281L (c.842C>T) variant. Using a CRISPR prime-edited hepatocyte cell line and a humanized PKU mouse model, we demonstrate efficient in vitro and in vivo correction of the P281L variant with adenine base editing. With the delivery of ABE8.8 mRNA and either of two guide RNAs in vivo using lipid nanoparticles (LNPs) in humanized PKU mice, we observe complete and durable normalization of blood Phe levels within 48 h of treatment, resulting from corrective PAH editing in the liver. These studies nominate a drug candidate for further development as a definitive treatment for a subset of PKU patients.
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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.