ArticleGene therapy2006
Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria.
Article in Gene therapy, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 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
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
49 citing papers in PubMed, 82 citations in OpenAlex.
- Phenylketonuria in Saudi Arabia: An Overview of Diagnosis, Genetics, and Therapeutic Strategies.Biology · 2026Review
- Nutritional and Therapeutic Strategies in Paediatric Phenylketonuria: A Narrative Literature Review.Nutrients · 2026Review
- Enhancement of therapeutic transgene insertion for treatment of murine phenylketonuria.Molecular therapy. Nucleic acids · 2026Article
- Blood phenylalanine lowering partially reverses white matter changes in a mouse model of phenylketonuria.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Current state of the treatment landscape of phenylketonuria.Orphanet journal of rare diseases · 2025Review
- Therapeutic liver cell transplantation to treat murine PKU.Journal of inherited metabolic disease · 2024Article
- State-of-the-art 2023 on gene therapy for phenylketonuria.Journal of inherited metabolic disease · 2024Review
- Enhanced genome editing to ameliorate a genetic metabolic liver disease through co-delivery of adeno-associated virus receptor.Science China. Life sciences · 2022Article
- The Utility of Genomic Testing for Hyperphenylalaninemia.Journal of clinical medicine · 2022Review
- Use of an adeno-associated virus serotype Anc80 to provide durable cure of phenylketonuria in a mouse model.Journal of inherited metabolic disease · 2021Article
- Liver transplantation for pediatric inherited metabolic liver diseases.World journal of hepatology · 2021Review
- A noncoding RNA modulator potentiates phenylalanine metabolism in mice.Science (New York, N.Y.) · 2021Article
- Phenylketonuria.Nature reviews. Disease primers · 2021Review
- Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord.Frontiers in molecular neuroscience · 2021Review
- Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase.Molecular therapy. Methods & clinical development · 2020Article
- A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.Molecular genetics and metabolism · 2020Article
- Article
- Apolipoprotein M overexpression through adeno-associated virus gene transfer improves insulin secretion and insulin sensitivity in Goto-Kakizaki rats.Journal of diabetes investigation · 2020Article
- Sustained Correction of a Murine Model of Phenylketonuria following a Single Intravenous Administration of AAVHSC15-PAH.Molecular therapy. Methods & clinical development · 2020Article
- AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria.Molecular therapy. Methods & clinical development · 2020Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Novel recombinant adeno-associated virus vectors pseudotyped with serotype 8 capsid (rAAV2/8) have recently shown exciting promise as effective liver-directed gene transfer reagents. We have produced a novel liver-specific rAAV2/8 vector expressing the mouse phenylalanine hydroxylase (Pah) cDNA and have administered this vector to hyperphenylalaninemic PAH-deficient Pah(enu2) mice, a model of human phenylketonuria (PKU). Our hypothesis was that this vector would produce sufficient hepatocyte transduction frequency and PAH activity to correct blood phenylalanine levels in murine PKU. Portal vein injection of recombinant AAV2/8 vector into five adult Pah(enu2) mice yielded complete and stable (up to 17 weeks) correction of serum phenylalanine levels. Liver PAH activity was corrected to 11.5+/-2.4% of wild type liver activity and was associated with a significant increase in phenylalanine clearance following parenteral phenylalanine challenge. Although questions of long-term safety and stability of expression remain, recombinant AAV2/8-mediated, liver-directed gene therapy is a promising novel treatment approach for PKU and allied inborn errors of metabolism.
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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.