Results 101 to 110 of about 538,734 (195)
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
Molecular dynamics simulation data of rat phenylalanine hydroxylase (rPAH) tetramer
, 2020 Raw data of molecular dynamics simulations of rat phenylalanine hydroxylase (T22-K450) tetramer. 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
Current state of the treatment landscape of phenylketonuria
Orphanet Journal of Rare DiseasesBackground Phenylketonuria (PKU) is an inborn error of amino acid metabolism caused by a deficiency of the L-phenylalanine-4-hydroxylase enzyme or its cofactor tetrahydrobiopterin (BH4) resulting in increased levels of phenylalanine (Phe) in blood and ...
Ine Nulmans +4 more
doaj +1 more source
Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening. [PDF]
Zhejiang Da Xue Xue Bao Yi Xue Ban, 2023 Sun M, Li Y, Li P, Li G, Yan Y, Zou H.
europepmc +1 more source
11β-hydroxylase deficiency disorders
, 2018 Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex.
Nguyễn Thị Phương Mai +2 more
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Decrease of phenylalanine hydroxylase during hepatocyte proliferation
, 1982 In partially hepatectomized rats, the activity of phenylalanine hydroxylase decreased in the regenerating liver but not in the kidney. The concentration of corticosterone in the plasma of hepatectomized rats increased, and phenylalanine hydroxylase ...
Ramasarma, T +2 more
core
Enhancement of therapeutic transgene insertion for treatment of murine phenylketonuria
Molecular Therapy: Nucleic AcidsLow in vivo transgene integration frequency limits the therapeutic efficacy of homology-directed repair (HDR) as a treatment for genetic disorders. This study demonstrates improved efficacy of HDR-mediated gene insertion for the treatment of murine ...
Michael A. Martinez +6 more
doaj +1 more source
Phenylalanine Hydroxylase Deficiency (Phenylketonuria) in a Pregnant Patient
North American Proceedings in Gynecology and Obstetrics - SupplementalPurpose: (1) To describe a case of a pregnant patient diagnosed at birth with phenylketonuria (PKU). (2) To review literature pertaining to management, treatment options, and outcomes of pregnancy in a patient with PKU. Methods: A 27-year-old G2P0101 female presented to the clinic for a new obstetrics visit.
Tatiana Roberts +2 more
openaire +1 more source
, 1971 Gas-liquid chromatographic methods have been developed for the analysis of: urinary phenylalanine metabolites (I) in patients with phenylketonuria, tyrosine metabolites (II) in patients with a disturbed tyrosine metabolism at the level of p ...
Ketting, D. +3 more
core
The effect of streptozotocin-induced diabetes on phenylalanine hydroxylase expression in rat liver
, 1989 The impact of experimentally induced diabetes on the expression of rat liver phenylalanine hydroxylase has been investigated. A significant elevation in maximal enzymic activity was observed in diabetes.
AK Green (14574539) +4 more
core +1 more source