Conformational selection turns on phenylalanine hydroxylase. [PDF]
J Biol Chem, 2018 Phenylalanine hydroxylase catalyzes a critical step in the phenylalanine catabolic pathway, and impairment of the human enzyme is linked to phenylketonuria.
Konovalov KA, Wang W, Huang X.
europepmc +3 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
Structure of full-length human phenylalanine hydroxylase in complex with tetrahydrobiopterin [PDF]
Proceedings of the National Academy of Sciences of the United States of America, 2019 Martin Alcorlo Pages +2 more
exaly +2 more sources
Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase [PDF]
Biochemical Journal, 1990 The laboratory mouse represents an important model for the study of phenylalanine metabolism and the pathochemistry of phenylketonuria, yet mouse phenylalanine hydroxylase (PAH) has not been extensively studied. We report the cloning and sequencing of a mouse PAH cDNA, the expression of enzymic activity from the mouse PAH cDNA clone and the ...
F D, Ledley +3 more
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Effect of experimental phenylketonuria on some organs of pregnant mothers of albino rats and their young’s during perinatal life. [PDF]
Journal of Bioscience and Applied Research, 2016 Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.It results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Hassan. I. Elsayyad +3 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
PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population
Kaohsiung Journal of Medical Sciences, 2018 Phenylketonuria (PKU) is a common autosomal recessive disorder of phenylalanine metabolism and mainly results a deficiency of phenylalanine hydroxylase gene (PAH). The incidence of various PAH mutations have race and ethnicity differences.
Zhen-Wen Wang +2 more
doaj +1 more source
Phenylketonuria (PKU): A problem solved?
Molecular Genetics and Metabolism Reports, 2016 Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual ...
Christine S. Brown, Uta Lichter-Konecki
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
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Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
, 2014 Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals and was the first inborn error of metabolism to be identified through population screening ...
Frazier, Dianne M +9 more
core +2 more sources