The data obtained indicate the presence of phenylalanine hydroxylase activity in human leucocytes and fibroblasts. The following methods were used: estimation of accumulation of the oxidized form of the pteridine cofactor after Ayling and coworkers and radiochemical method. Probably this activity is connected with cell membranes and can be solubilized by treatment of cells by Tritone X-100. The possibility of estimation of phenylalanine hydroxylase activity in leucocytes instead of liver bioptates for discrimination of homo -- and heterozygotes with PKU gene is assumptive.
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Bioprocess Biosyst Eng
January 2025
Department of Chemical and Biomolecular Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon, 34141, Korea.
p-Coumaric acid (p-CA), an invaluable phytochemical, has novel bioactivities, including antiproliferative, anxiolytic, and neuroprotective effects, and is the main precursor of various flavonoids, such as caffeic acid, naringenin, and resveratrol. Herein, we report the engineering of Escherichia coli for de novo production of p-CA via the PAL-C4H pathway. As the base strain, we used the E.
View Article and Find Full Text PDFJ Pharmacokinet Pharmacodyn
January 2025
PTC Therapeutics, Warren, NJ, USA.
Sepiapterin is an exogenously synthesized new chemical entity that is structurally equivalent to endogenous sepiapterin, a biological precursor of tetrahydrobiopterin (BH), which is a cofactor for phenylalanine hydroxylase. Sepiapterin is being developed for the treatment of hyperphenylalaninemia in pediatric and adult patients with phenylketonuria (PKU). This study employed concentration-QT interval analysis to assess QT prolongation risk following sepiapterin treatment.
View Article and Find Full Text PDFAAPS J
January 2025
Moderna, Inc., Cambridge, Massachusetts, USA.
While the branched DNA (bDNA) assay is an established bioanalytical method for measurement of lipid nanoparticle (LNP)-encapsulated messenger RNA (mRNA) pharmacokinetic parameters, reverse transcription-quantitative polymerase chain reaction (RT-qPCR) has been considered as an alternative platform. RT-qPCR and bDNA platforms were compared for sensitivity, specificity, correlation, and overall assay performance using serum and tissue samples from 2 nonclinical mouse studies of a therapeutic mRNA candidate, LNP-PAH-mRNA, which encodes for human phenylalanine hydroxylase enzyme. Pharmacokinetic parameter noncompartmental analysis was completed using Phoenix WinNonlin.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
January 2025
Department of Rare Diseases, Institute of Graduate Studies in Health Sciences, Istanbul University, Istanbul, Türkiye.
Objectives: Phenylketonuria (PKU) and tyrosinemia type 3 (HT3) are both rare autosomal recessive disorders of phenylalanine-tyrosine metabolism. PKU is caused by a deficiency in phenylalanine hydroxylase (PAH), leading to elevated phenylalanine (Phe) and reduced tyrosine (Tyr) levels. HT3, the rarest form of tyrosinemia, is due to a deficiency in 4-hydroxyphenylpyruvate dioxygenase (HPD).
View Article and Find Full Text PDFFront Plant Sci
December 2024
Botany and Microbiology Department, Faculty of Science, Beni-Suef University, Beni-Suef, Egypt.
Introduction: Heat stress caused by global warming adversely affects wheat yield through declining most nutritional quality attributes in grains, excluding grain protein content.
Methods: This research investigated the biochemical, physiological, and antioxidant responses of wheat plants under heat stress, focusing on the role of plant growth-promoting bacteria ( sp.).
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