Associated Papers
Age-Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria.
Kitayama K et al.
Journal of Inherited Metabolic Disease, 2026
Advancing Gene Therapy for Phenylketonuria: From Precision Editing to Clinical Translation.
Yu I et al.
International Journal of Molecular Sciences, 2025
Experimental Animal Models of Phenylketonuria: Pros and Cons.
Bobrova NA et al.
International Journal of Molecular Sciences, 2025
Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T.
Zhang C et al.
Orphanet Journal of Rare Diseases, 2025
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
Martínez-Pizarro A et al.
Human Molecular Genetics, 2024
Mouse models for inherited monoamine neurotransmitter disorders.
Thöny B et al.
Journal of Inherited Metabolic Disease, 2024
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA et al.
Human Genomics, 2022
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.
Aubi O et al.
Nature Communications, 2021
Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.
Odagiri S et al.
International Journal of Neonatal Screening, 2021
Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia.
Sarodaya N et al.
International Journal of Molecular Sciences, 2020
Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.
Jung-Kc K et al.
Human Mutation, 2019
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism.
Eichinger A et al.
Human Molecular Genetics, 2018
Phenylalanine monooxygenase and the sulfur oxygenation of S-carboxymethyl-L-cysteine in mice.
Vandenbossche E et al.
Xenobiotica; the Fate of Foreign Compounds in Biological Systems, 2016
Phenylketonuria: translating research into novel therapies.
Ho G et al.
Translational Pediatrics, 2014
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model.
Sarkissian CN et al.
Human Mutation, 2012
Novel pharmacological chaperones that correct phenylketonuria in mice.
Santos-Sierra S et al.
Human Molecular Genetics, 2012
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Okano Y et al.
Journal of Human Genetics, 2011
The G46S-hPAH mutant protein: a model to study the rescue of aggregation-prone PKU mutations by chaperones.
Leandro J et al.
Molecular Genetics and Metabolism, 2011
Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism.
Muntau AC et al.
Journal of Inherited Metabolic Disease, 2010
New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Lagler FB et al.
Biochemical Pharmacology, 2010
Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor.
Gersting SW et al.
The Journal of Biological Chemistry, 2010
Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
Gersting SW et al.
Human Molecular Genetics, 2010
Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.
Pey AL et al.
The Journal of Clinical Investigation, 2008
PAHdb 2003: what a locus-specific knowledgebase can do.
Scriver CR et al.
Human Mutation, 2003