Results 31 to 40 of about 32,654 (265)
Incidence of Phenylketonuria in Southern Iran [PDF]
Iranian Journal of Medical Sciences, 2010 Background: Phenylketonuria is a hereditary, autosomal recessivedisorder caused by deficiency of phenylalanine hydroxylaseor its cofactor tetrahydrobiopterin.
Asadollah Habib +3 more
doaj
Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]
, 2018 We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe +12 more
core +2 more sources
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
Phenylalanine Hydroxylase Misfolding and Pharmacological Chaperones [PDF]
Current Topics in Medicinal Chemistry, 2013 Phenylketonuria (PKU) is a loss-of-function inborn error of metabolism. As many other inherited diseases the main pathologic mechanism in PKU is an enhanced tendency of the mutant phenylalanine hydroxylase (PAH) to misfold and undergo ubiquitin-dependent degradation. Recent alternative approaches with therapeutic potential for PKU aim at correcting the
Oscar Aubi +2 more
openaire +3 more sources
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
Unexpected evolutionary proximity of eukaryotic and cyanobacterial enzymes responsible for biosynthesis of retinoic acid and its oxidation [PDF]
, 2014 Biosynthesis of retinoic acid from retinaldehyde (retinal) is catalysed by an aldehyde dehydrogenase (ALDH) and its oxidation by cytochrome P450 enzymes (CYPs).
Gallagher, Connor +4 more
core +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
Stabilization of Tryptophan Hydroxylase 2 by L-Phenylalanine Induced Dimerization [PDF]
, 2016 Tryptophan hydroxylase 2 (TPH2) catalyses the initial and rate‐limiting step in the biosynthesis of serotonin, which is associated with a variety of disorders such as depression, obsessive compulsive disorder, and schizophrenia.
Boesen, Jane +5 more
core +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
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