Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives. [PDF]
Biomolecules, 2021 Phenylketonuria (PKU) is a genetic disease caused by deficient activity of human phenylalanine hydroxylase (hPAH) that, when untreated, can lead to severe psychomotor impairment.
Lopes RR +12 more
europepmc +2 more sources
Phenylalanine hydroxylase mRNA rescues the phenylketonuria phenotype in mice. [PDF]
Front Bioeng Biotechnol, 2022 Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency in functional phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine (Phe) in patients’ blood and organs.
Cacicedo ML +11 more
europepmc +2 more sources
Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency. [PDF]
Front Neurol, 2021 In phenylalanine hydroxylase (PAH) deficiency, an easily feasible method to access the progression of neurodegeneration is warranted to contribute to current discussions on treatment indications and targets.
Lotz-Havla AS +8 more
europepmc +2 more sources
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase. [PDF]
Nat Commun, 2021 Phenylketonuria (PKU) is caused by autosomal recessive variants in phenylalanine hydroxylase (PAH) and can lead to neurotoxicity. Here the authors describe a mouse model of PKU based on a mutation in phenylalanine hydroxylase (R261Q) which replicates ...
Aubi O +11 more
europepmc +2 more sources
A unique dual activity amino acid hydroxylase in Toxoplasma gondii. [PDF]
PLoS ONE, 2009 The genome of the protozoan parasite Toxoplasma gondii was found to contain two genes encoding tyrosine hydroxylase; that produces L-DOPA. The encoded enzymes metabolize phenylalanine as well as tyrosine with substrate preference for tyrosine.
Elizabeth A Gaskell +4 more
doaj +2 more sources
Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran. [PDF]
Int J Prev Med, 2017 Background: There are more than 500 different mutations on phenylalanine hydroxylase (PAH) gene that is responsible for phenylketonuria (PKU) diseases and the spectrum of these mutations is varied in different populations. The main clinical manifestation
Zamanfar D +5 more
europepmc +2 more sources
Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish. [PDF]
Mol Genet Metab Rep, 2018 In the Plain Community, there is an increased frequency of genetic disorders including phenylalanine hydroxylase (PAH) deficiency. Common pathogenic variants have been observed due to founder effect and closed community.
Schwoerer JS +4 more
europepmc +2 more sources
Detection of IVS4+1G>A mutation in phenylalanine hydroxylase gene in North of Iran using PCR-sequencing [PDF]
Journal of Shahrekord University of Medical Sciences, 2023 Background and aims: Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) metabolism. Mutations in the phenylalanine hydroxylase (PAH) gene are the main reason for the incidence of PKU.
Maryam Amini Chelak +1 more
doaj +1 more source
Molecular Therapy: Methods & Clinical Development, 2020 Phenylketonuria is an inborn error of metabolism caused by loss of function of the liver-expressed enzyme phenylalanine hydroxylase and is characterized by elevated systemic phenylalanine levels that are neurotoxic.
Seemin S. Ahmed +14 more
doaj +1 more source
BmPAH catalyzes the initial melanin biosynthetic step in Bombyx mori. [PDF]
PLoS ONE, 2013 Pigmentation during insect development is a primal adaptive requirement. In the silkworm, melanin is the primary component of larval pigments. The rate limiting substrate in melanin synthesis is tyrosine, which is converted from phenylalanine by the rate-
Ping Chen +6 more
doaj +1 more source