Dynamic regulation of phenylalanine hydroxylase
Pteridines, 2014 Phenylalanine hydroxylase (PAH) is the key enzyme in phenylalanine metabolism, catalyzing its oxidative breakdown to tyrosine. Its function in the committed step of amino acid metabolism requires strict regulation. Thus, several regulatory mechanisms are
Fuchs Julian E. +2 more
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The Isoenzymes of Phenylalanine Hydroxylase in Humans [PDF]
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1977 Charles E. Parker +3 more
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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 ...
Fred D. Ledley +3 more
openaire +3 more sources
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. Phenylalanine is also a positive allosteric regulator of the enzyme, and the allosteric binding site has been determined by crystallography.
Konovalov KA, Wang W, Huang X.
europepmc +6 more sources
Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]
, 2020 Therapeutic enzymes are administered for the treatment of a wide variety of diseases. They exert their effects through binding with a high affinity and specificity to disease-causing substrates to catalyze their conversion to a non-noxious product, to ...
Bax, BE
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Phenylalanine Hydroxylase Deficiency and Citrin Deficiency in a Chinese Infant. [PDF]
Chin Med J (Engl), 2015 Ye J, Qiu WJ, Han LS, Zhang HW, Gu XF.
europepmc +2 more sources
Sites of Biosynthesis of Outer and Inner Membrane Proteins of Neurospora crassa Mitochondria [PDF]
, 1970 Outer and inner membranes of Neurospora crassa mitochondria were separated by the combined swelling, shrinking, sonication procedure. Membranes were characterized by electron microscopy and by marker enzyme activities.
Aasen A. J. +14 more
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Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria [PDF]
, 2017 Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as “responders.” Although prior research has identified biochemical and genotypic ...
Christ, Shawn E +5 more
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In Vivo Studies of Phenylalanine Hydroxylase by Phenylalanine Breath Test: Diagnosis of Tetrahydrobiopterin-Responsive Phenylalanine Hydroxylase Deficiency [PDF]
Pediatric Research, 2004 Tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency is characterized by reduction of blood phenylalanine level after a BH4-loading test. Most cases of BH4-responsive PAH deficiency include mild phenylketonuria (PKU) or mild hyperphenylalaninemia (HPA), but not all patients with mild PKU respond to BH4.
Yoshiyuki Okano +9 more
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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