Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model

Treatment with tetrahydrobiopterin (BH4) is the latest therapeutic option approved for patients with phenylketonuria (PKU)—one of the most frequent inborn metabolic diseases. PKU or phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene. Given that some PAH mutations are r...

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Veröffentlicht in:	Biochemical genetics 2018-10, Vol.56 (5), p.533-541
Hauptverfasser:	Klaassen, Kristel, Djordjevic, Maja, Skakic, Anita, Desviat, Lourdes R., Pavlovic, Sonja, Perez, Belen, Stojiljkovic, Maja
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino acid substitution Amino acids Biochemistry Biomedical and Life Sciences Biomedicine Biopterins - analogs & derivatives Biopterins - pharmacology Cell Line, Tumor Cellular structure Computation Computer applications Evolutionary conservation Genotypes Glutamine Glutamine - genetics Hepatoma Human Genetics Humans Hydroxylase Liver cancer Lysine Lysine - genetics Medical Microbiology Metabolic disorders Models, Biological Models, Molecular Mutation Original Article PAH gene Patients Phenylalanine Phenylalanine 4-monooxygenase Phenylalanine Hydroxylase - chemistry Phenylalanine Hydroxylase - genetics Phenylalanine Hydroxylase - metabolism Phenylketonuria Phenylketonurias - drug therapy Phenylketonurias - genetics Phenylketonurias - metabolism Point Mutation Protein structure Protein Structure, Tertiary Proteins Sequence Analysis, DNA Tetrahydrobiopterin Zoology
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