ArticleProceedings of the National Academy of Sciences of the United States of America2019
Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Italian national consensus statement on management and pharmacological treatment of phenylketonuria.Orphanet journal of rare diseases · 2021Pooled it
- DNAJC12 Stabilizes Phenylalanine Hydroxylase and Facilitates Its Substrate-Dependent Activation.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.Nutrients · 2026Review
- Synthetic closed-loop gene circuit for phenylalanine regulation.Nucleic acids research · 2025Article
- Selectivity and Safety Characterization of a Xanthine-Imidazothiazole Lead Structure: a Novel Tryptophan Hydroxylase Inhibitor of Peripheral Serotonin Synthesis.ACS pharmacology & translational science · 2025Article
- Factors associated with psycho-behavioral problems among 100 children with phenylketonuria aged 6-18 years.Orphanet journal of rare diseases · 2025Article
- Experimental Animal Models of Phenylketonuria: Pros and Cons.International journal of molecular sciences · 2025Review
- Developmental and Cognitive Outcomes in 342 Patients With Different Types of Hyperphenylalaninemia.Sisli Etfal Hastanesi tip bulteni · 2025Article
- High-throughput assays to assess variant effects on disease.Disease models & mechanisms · 2024Article
- Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations.Clinical case reports · 2024Article
- In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening.Children (Basel, Switzerland) · 2023Article
- Arabidopsis ACT DOMAIN REPEAT9 represses glucose signaling pathways.Plant physiology · 2023Article
- In Silico Identification of Lead Compounds for Pseudomonas Aeruginosa PqsA Enzyme: Computational Study to Block Biofilm Formation.Biomedicines · 2023Article
- Insights into Molecular Structure of Pterins Suitable for Biomedical Applications.International journal of molecular sciences · 2022Review
- Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.Molecular genetics & genomic medicine · 2022Article
- Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants.Scientific reports · 2022Article
- Impact of Fluorinated Ionic Liquids on Human Phenylalanine Hydroxylase-A Potential Drug Delivery System.Nanomaterials (Basel, Switzerland) · 2022Article
- Structural mechanism for tyrosine hydroxylase inhibition by dopamine and reactivation by Ser40 phosphorylation.Nature communications · 2022Article
- Article
- Cryo-EM Structure and Activator Screening of Human Tryptophan Hydroxylase 2.Frontiers in pharmacology · 2022Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
Abstract
Phenylalanine hydroxylase (PAH) is a key enzyme in the catabolism of phenylalanine, and mutations in this enzyme cause phenylketonuria (PKU), a genetic disorder that leads to brain damage and mental retardation if untreated. Some patients benefit from supplementation with a synthetic formulation of the cofactor tetrahydrobiopterin (BH
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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.