Results 21 to 30 of about 32,654 (265)
Phenylketonuria (PKU): A problem solved?
Molecular Genetics and Metabolism Reports, 2016 Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual ...
Christine S. Brown, Uta Lichter-Konecki
doaj +1 more source
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
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
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
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
Dynamic regulation of phenylalanine hydroxylase by simulated redox manipulation.
PLoS ONE, 2012 Recent clinical studies revealed increased phenylalanine levels and phenylalanine to tyrosine ratios in patients suffering from infection, inflammation and general immune activity.
Julian E Fuchs +6 more
doaj +1 more source
Frontiers in Genetics, 2021 Melatonin acts both as an antioxidant and as a growth regulatory substance in plants. Pseudomonas fluorescens endophytic bacterium has been shown to produce melatonin and increase plant resistance to abiotic stressors through increasing endogenous ...
Jian Jiao +12 more
doaj +1 more source
Identification of the Allosteric Site for Phenylalanine in Rat Phenylalanine Hydroxylase. [PDF]
J Biol Chem, 2016 Liver phenylalanine hydroxylase (PheH) is an allosteric enzyme that requires activation by phenylalanine for full activity. The location of the allosteric site for phenylalanine has not been established. NMR spectroscopy of the isolated regulatory domain (RDPheH(25-117) is the regulatory domain of PheH lacking residues 1-24) of the rat enzyme in the ...
Zhang S, Fitzpatrick PF.
europepmc +4 more sources
Use of sapropterin in Mexican patients with yperphenylalaninemia
Acta Pediátrica de México, 2014 Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life.
Susana Monroy-Santoyo +2 more
doaj +1 more source
Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]
, 2017 Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego +8 more
core +2 more sources