Results 21 to 30 of about 165,999 (264)
Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria [PDF]
, 2017 Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as “responders.” Although prior research has identified biochemical and genotypic ...
Christ, Shawn E +5 more
core +4 more sources
Mechanism of phenylalanine regulation of phenylalanine hydroxylase.
Journal of Biological Chemistry, 1990 The mechanism of phenylalanine regulation of rat liver phenylalanine hydroxylase was studied. We show that phenylalanine "activates" phenylalanine hydroxylase, converting it from an inactive to active form, by binding at a true allosteric regulatory site.
S H Jones, R. Shiman, D W Gray
openaire +3 more sources
7-Tetrahydrobiopterin is an uncoupled cofactor for rat hepatic phenylalanine hydroxylase [PDF]
, 1991 Rat hepatic phenylalanine hydroxylase requires both a tetrahydropterin cofactor and molecular oxygen to convert phenylalanine to tyrosine. During the physiological hydroxylation, a single mol of the natural cofactor, tetrahydrobiopterin, is oxidized for ...
Davis, Michael D., Kaufman, Seymour
core +1 more source
Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]
, 2020 Therapeutic enzymes are administered for the treatment of a wide variety of diseases. They exert their effects through binding with a high affinity and specificity to disease-causing substrates to catalyze their conversion to a non-noxious product, to ...
Bax, BE
core +1 more source
Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria. [PDF]
Springerplus, 2015 Phenylketonuria (PKU) is an autosomal recessive disease which results from mutations in the phenylalanine hydroxylase (PAH) gene. The aim of this study was the identification of sixteen different mutations in Iranian patients with hyperphenylalaninemia ...
Biglari A +5 more
europepmc +2 more sources
Generation and analysis of an Eucalyptus globulus cDNA library constructed from seedlings subjected to low temperature conditions [PDF]
, 2008 Indexación: ScieloEucalyptus globulus is the most important commercial temperate hardwood in the world because of its wood properties and due to its characteristics for biofuel production. However, only a very low number of expressed sequence tags (ESTs)
Gamboa, Maria Cecilia +4 more
core +2 more sources
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test [PDF]
, 2018 : Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most frequent phenylalanine hydroxylase (PAH, Gene ID: 5053) mutations.
Antonio Angeloni +9 more
core +1 more source
Journal of the American Chemical Society, 2016 Mammalian phenylalanine hydroxylase (PheH) is an allosteric enzyme that catalyzes the first step in the catabolism of the amino acid phenylalanine. Following allosteric activation by high phenylalanine levels, the enzyme catalyzes the pterin-dependent ...
S. Meisburger +5 more
semanticscholar +1 more source
Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association? [PDF]
, 2014 Background Central precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP.
Donaldson, Malcolm +3 more
core +3 more sources
Proceedings of the National Academy of Sciences of the United States of America, 2016 Significance Phenylketonuria and milder hyperphenylalaninemias constitute the most common inborn error of amino acid metabolism, usually caused by defective phenylalanine hydroxylase (PAH).
E. Arturo +7 more
semanticscholar +1 more source