Results 31 to 40 of about 38,679 (221)
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
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
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
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
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
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
Phenylalanine Hydroxylase Deficiency Hospitalizations [PDF]
ICAN: Infant, Child, & Adolescent Nutrition, 2015 Phenylalanine hydroxylase (PAH) deficiency is a metabolic disorder that requires lifelong diet adherence for optimal neurodevelopmental and psychological outcomes. Maintaining phenylalanine (Phe) levels within the desired range (120-360 µmol/L) can be increasingly difficult as children grow older, gain more autonomy, and are affected by social ...
Emily Barr +3 more
openaire +1 more source
Lignin engineering in forest trees [PDF]
, 2019 Wood is a renewable resource that is mainly composed of lignin and cell wall polysaccharides. The polysaccharide fraction is valuable as it can be converted into pulp and paper, or into fermentable sugars.
Alvarenga Chanoca, Alexandra +2 more
core +1 more source
Arthritis &Rheumatology, Accepted Article.Objective Osteoarthritis—the leading cause of disability worldwide—disproportionately affects females, yet sex remains an overlooked determinant. This disparity stems from sex‐specific differences in injury susceptibility—a major risk factor for disease.
Hope D. Welhaven +6 more
wiley +1 more source