Results 21 to 30 of about 109,987 (177)
Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
Journal of Inborn Errors of Metabolism and Screening, 2019 Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes).
Rosa E. Enacán +10 more
doaj +1 more source
Disturbed amino acid metabolism in HIV: association with neuropsychiatric symptoms
Frontiers in Psychiatry, 2015 Blood levels of the amino acid phenylalanine, as well as of the tryptophan breakdown product kynurenine, are found to be elevated in human immunodeficiency virus type 1 (HIV-1)-infected patients.
Johanna M Gostner +3 more
doaj +1 more source
Biotechnology for Biofuels and Bioproducts, 2023 Background Aromatic compounds derived from tyrosine are important and diverse chemicals that have industrial and commercial applications. Although these aromatic compounds can be obtained by extraction from natural producers, their growth is slow, and ...
Yasuharu Satoh +4 more
doaj +1 more source
Molecular diagnosis of phenylketonuria: From defective protein to disease-causing gene mutation [PDF]
Journal of Medical Biochemistry, 2009 Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism, with an average incidence of 1/10000 in Caucasians. PKU is caused by more than 500 mutations in the phenylalanine hydroxylase gene (PAH) which result in phenylalanine ...
Pavlović Sonja, Stojiljković Maja
doaj
Advanced Science, EarlyView.Using a novel, aptamer‐based biosensor, here we have performed 20‐s‐resolved, in situ measurements of plasma‐free tryptophan in the jugular veins of live rats (blue). This unprecedented time‐resolution provides insights into the regulation of tryptophan metabolism in live, intact animals.
Yuyang Wu +7 more
wiley +1 more source
Pediatria i Medycyna Rodzinna, 2018 Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal recessive disease affecting metabolism. This diet-dependent condition is found in Poland in 1:8,000 live births.
Joanna Żółkowska +2 more
doaj +1 more source
PKU dietary handbook to accompany PKU guidelines
Orphanet Journal of Rare Diseases, 2020 Background Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
A. MacDonald +17 more
doaj +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Future Postharvest and Food, EarlyView.Processing quality in fruit crops is governed by complex genetic networks controlling texture, sweetness, color, browning, aroma, and nutritional quality. Advances in genomics, genomic selection, and genome editing enable the development of processing‐oriented cultivars with improved industrial performance, reduced postharvest losses, and enhanced ...
M. Ranjani +2 more
wiley +1 more source
Molecular dynamics simulation data of rat phenylalanine hydroxylase (rPAH) monomer
, 2020 Raw data of molecular dynamics simulations of rat phenylalanine hydroxylase (T22-K450) monomer. Missing residues were rebuilt using Modeller. Metal site was parameterized using MCPB.py in AmberTools. Simulation starts from the crystal pose (PDB: 5DEN)
Ge Yunhui, Voelz Vincent
core +1 more source