Regulation and crystallization of phosphorylated and dephosphorylated forms of truncated dimeric phenylalanine hydroxylase [PDF]
Boštjan Kobe+8 more
openalex +1 more source
Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: A novel mutation in exon 3 [PDF]
Cezary Żekanowski+3 more
openalex +1 more source
Phenylalanine hydroxylase: Function, structure, and regulation
M. Flydal, Aurora Martínez
semanticscholar +1 more source
A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family
Sandra E. Kleiman+3 more
openalex +1 more source
Mutagenesis of the regulatory domain of phenylalanine hydroxylase [PDF]
Guoan Wang, Peide Gu, Seymour Kaufman
openalex +1 more source
Phosphorylation of Phenylalanine Hydroxylase Increases the Rate Constant for Formation of the Activated Conformation of the Enzyme. [PDF]
Khan CA, Fitzpatrick PF.
europepmc +1 more source
Embryonic but Not Postnatal Reexpression of Hepatocyte Nuclear Factor 1α (HNF1α) Can Reactivate the Silent Phenylalanine Hydroxylase Gene in HNF1α-Deficient Hepatocytes [PDF]
Benoı̂t Viollet+2 more
openalex +1 more source
Phenylketonuria is a rare autosomal recessive metabolic disorder mainly due to a significant reduction in the enzyme phenylalanine hydroxylase, resulting in elevation of phenylalanine in the blood. Here, we have established two fibroblast-derived induced
Desi Veleva+5 more
doaj
Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene [PDF]
Haruo Shintaku+12 more
openalex +1 more source