Associated Papers
Blood phenylalanine lowering partially reverses white matter changes in a mouse model of phenylketonuria.
Manek R et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 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
Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria.
Baek R et al.
Nature Communications, 2024
Mouse models for inherited monoamine neurotransmitter disorders.
Thöny B et al.
Journal of Inherited Metabolic Disease, 2024
A universal strategy for AAV delivery of base editors to correct genetic point mutations in neonatal PKU mice.
Zhou L et al.
Molecular Therapy. Methods & Clinical Development, 2022
A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Li Y et al.
Science (new York, N.y.), 2021
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.
Aubi O et al.
Nature Communications, 2021
CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria.
Singh K et al.
Scientific Reports, 2021
Long-Term Metabolic Correction of Phenylketonuria by AAV-Delivered Phenylalanine Amino Lyase.
Tao R et al.
Molecular Therapy. Methods & Clinical Development, 2020
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.
Richards DY et al.
Molecular Genetics and Metabolism, 2020
AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria.
Richards DY et al.
Molecular Therapy. Methods & Clinical Development, 2020
Sustained Correction of a Murine Model of Phenylketonuria following a Single Intravenous Administration of AAVHSC15-PAH.
Ahmed SS et al.
Molecular Therapy. Methods & Clinical Development, 2020
Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU).
Harding CO
Molecular Frontiers Journal, 2019
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Bending of DNA duplexes with mutation motifs.
Růžička M et al.
Dna Research : an International Journal for Rapid Publication of Reports on Genes and Genomes, 2019
Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase.
Pecimonova M et al.
Genes, 2019
Gene and Base Editing as a Therapeutic Option for Cystic Fibrosis-Learning from Other Diseases.
Mention K et al.
Genes, 2019
Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.
Jung-Kc K et al.
Human Mutation, 2019
Treatment of a metabolic liver disease by in vivo genome base editing in adult mice.
Villiger L et al.
Nature Medicine, 2018
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism.
Eichinger A et al.
Human Molecular Genetics, 2018
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China.
Zhang Z et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2018
Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem.
Zeile WL et al.
Pediatric Research, 2018
A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liver.
Gallego-Villar L et al.
Molecular Therapy. Nucleic Acids, 2014
Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.
Réblová K et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model.
Sarkissian CN et al.
Human Mutation, 2012
Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria.
Sarkissian CN et al.
Molecular Genetics and Metabolism, 2011
Complete restoration of phenylalanine oxidation in phenylketonuria mouse by a self-complementary adeno-associated virus vector.
Yagi H et al.
The Journal of Gene Medicine, 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
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
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
Tissue-specific activation of mitogen-activated protein kinases for expression of transthyretin by phenylalanine and its metabolite, phenylpyruvic acid.
Park JW et al.
Experimental & Molecular Medicine, 2010
Altered brain gene expression profiles associated with the pathogenesis of phenylketonuria in a mouse model.
Park JW et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.
Pey AL et al.
The Journal of Clinical Investigation, 2008
Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer.
Ding Z et al.
Gene Therapy, 2006
Altered expression of myocilin in the brain of a mouse model for phenylketonuria (PKU).
Surendran S et al.
Neuroscience Letters, 2005
Characterization of transgenic mice with the expression of phenylalanine hydroxylase and GTP cyclohydrolase I in the skin.
Christensen R et al.
Experimental Dermatology, 2005
Long-term correction of hyperphenylalaninemia by AAV-mediated gene transfer leads to behavioral recovery in phenylketonuria mice.
Mochizuki S et al.
Gene Therapy, 2004
PAHdb 2003: what a locus-specific knowledgebase can do.
Scriver CR et al.
Human Mutation, 2003
Metabolic engineering as therapy for inborn errors of metabolism--development of mice with phenylalanine hydroxylase expression in muscle.
Harding CO et al.
Gene Therapy, 1998