Results 31 to 40 of about 16,453 (233)
Pediatria i Medycyna Rodzinna, 2018 Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal recessive disease affecting metabolism. This diet-dependent condition is found in Poland in 1:8,000 live births.
Joanna Żółkowska +2 more
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Structural features of the regulatory ACT domain of phenylalanine hydroxylase. [PDF]
PLoS ONE, 2013 Phenylalanine hydroxylase (PAH) catalyzes the conversion of L-Phe to L-Tyr. Defects in PAH activity, caused by mutations in the human gene, result in the autosomal recessively inherited disease hyperphenylalaninemia. PAH activity is regulated by multiple
Carla Carluccio +4 more
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Advanced Science, EarlyView.The electron transfer flux in CPR‐P450 catalytic system is systematically engineered through: i) enhancing electron transfer rate by redesigning the putative electron transfer pathway of CPR; ii) improving electron‐receiving rate by evolving the heme domain of tryptophan‐5‐hydroxylase (T5H); iii) enlarging electron supply by fine‐tuning NADPH synthesis.
Wenzhao Xu +4 more
wiley +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
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini +8 more
wiley +1 more source
Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2016 Purpose: Phenylketonuria is an autosomal recessive deficiency of the hepatic enzyme phenylalanine hydroxylase. With this study, detection of the most frequent phenylalanine hydroxylase gene mutations in Turkish population is aimed. Material and Methods:
Umit Luleyap +7 more
doaj +1 more source
Liver phenylalanine hydroxylase assay [PDF]
Biochemical Medicine, 1976 The first reaction is catalyzed by phenylalanine hydroxylase and the second reaction, which generates the reduced form of pteridine cofactor (biopterin), is catalyzed by dihydropteridine reductase (l-3). A direct assay of phenylalanine hydroxylase can be achieved by supplying optimal concentrations of reduced pteridine cofactor or an analog of the ...
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ChemBioChem, Accepted Article.2‐oxoglutarate (2OG)‐dependent non‐heme iron (NHFe) enzymes constitute a family of enzymes that use 2OG and oxygen to catalyze the hydroxylation of unactivated C(sp3)–H bonds. These enzymes are of biological importance and therapeutic interest due to their role in regulating various cellular processes. Herein, we have rationally designed two classes of
Peter Windsor +3 more
wiley +1 more source
Elevated levels of plasma phenylalanine in schizophrenia: a guanosine triphosphate cyclohydrolase-1 metabolic pathway abnormality? [PDF]
PLoS ONE, 2014 BACKGROUND: Phenylalanine and tyrosine are precursor amino acids required for the synthesis of dopamine, the main neurotransmitter implicated in the neurobiology of schizophrenia.
Olaoluwa Okusaga +15 more
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Allosteric regulation of phenylalanine hydroxylase [PDF]
Archives of Biochemistry and Biophysics, 2012 The liver enzyme phenylalanine hydroxylase is responsible for conversion of excess phenylalanine in the diet to tyrosine. Phenylalanine hydroxylase is activated by phenylalanine; this activation is inhibited by the physiological reducing substrate tetrahydrobiopterin.
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