PKU mutation p.G46S prevents the stereospecific binding of l‐phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain
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DOI: 10.1002/2211-5463.12175
Abstract: Mammalian phenylalanine hydroxylase (PAH) has a potential allosteric regulatory binding site for l‐phenylalanine (l‐Phe), in addition to its catalytic site. This arrangement is supported by a crystal structure of a homodimeric truncated form of the… read more here.
Keywords: hpah; regulatory domain; phenylalanine; phenylalanine hydroxylase ... See more keywords
Substituting Tyr138 in the active site loop of human phenylalanine hydroxylase affects catalysis and substrate activation
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DOI: 10.1002/2211-5463.12243
Abstract: Mammalian phenylalanine hydroxylase (PAH) is a key enzyme in l‐phenylalanine (l‐Phe) metabolism and is active as a homotetramer. Biochemical and biophysical work has demonstrated that it cycles between two states with a variably low and… read more here.
Keywords: phe; phenylalanine; phenylalanine hydroxylase; active site ... See more keywords
Phenylalanine hydroxylase variants interact with the co‐chaperone DNAJC12
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23712
Abstract: DNAJC12, a type III member of the HSP40/DNAJ family, has been identified as the specific co‐chaperone of phenylalanine hydroxylase (PAH) and the other aromatic amino acid hydroxylases. DNAJ proteins work together with molecular chaperones of… read more here.
Keywords: pah; dnajc12; chaperone; phenylalanine hydroxylase ... See more keywords
Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular biology reports"
DOI: 10.1007/s11033-021-06163-w
Abstract: Phenylketonuria (PKU) is an autosomal recessive amino acid metabolism disorder caused by variants in the gene encoding phenylalanine hydroxylase (PAH; EC1.14.16.1). This study aimed to assess the specific heterogeneity of PAH variants found in Thai… read more here.
Keywords: pah variants; two novel; phenylalanine hydroxylase; thai patients ... See more keywords
Manipulation of a cation-π sandwich reveals conformational flexibility in phenylalanine hydroxylase.
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DOI: 10.1016/j.biochi.2020.11.011
Abstract: Phenylalanine hydroxylase (PAH) is an allosteric enzyme that maintains phenylalanine (Phe) below neurotoxic levels; its failure results in phenylketonuria, an inborn error of amino acid metabolism. Wild type (WT) PAH equilibrates among resting-state (RS-PAH) and… read more here.
Keywords: pah; cation sandwich; phe; phenylalanine hydroxylase ... See more keywords
In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.05.029
Abstract: Phenylketonuria (PKU), caused by phenylalanine hydroxylase (PAH) gene variants, is a common autosomal inherited metabolic disease. So far, 1111 PAH variants have been revealed. The residual activity of the PAH variants is the key determinant… read more here.
Keywords: phenotype; residual activities; pah variants; phenylalanine hydroxylase ... See more keywords
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
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DOI: 10.1038/s41598-018-35373-9
Abstract: Phenylalanine hydroxylase deficiency (PAHD), one of the genetic disorders resulting in hyperphenylalaninemia, has a complex phenotype with many variants and genotypes among different populations. Here, we describe the mutational and phenotypic spectrum of PAHD in… read more here.
Keywords: phenotypic spectrum; hydroxylase deficiency; phenylalanine hydroxylase; mutational phenotypic ... See more keywords
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China
Sign Up to like & getrecommendations! Published in 2018 at "Scandinavian Journal of Clinical and Laboratory Investigation"
DOI: 10.1080/00365513.2018.1434898
Abstract: Abstract Phenylketonuria (PKU, OMIM 261600) caused by phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disease that is characterized by abnormalities of phenylalanine metabolism. In this study, a total of 77 patients, originating from the… read more here.
Keywords: region china; mutational spectrum; central region; phenylalanine hydroxylase ... See more keywords
Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.
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DOI: 10.1089/gtmb.2022.0218
Abstract: Background: Deleterious mutations in the human gene phenylalanine hydroxylase (PAH) encoding the phenylalanine hydroxylase enzyme give rise to classic phenylketonuria and hyperphenylalaninemia. Our study was designed to characterize the spectrum of variants in the PAH… read more here.
Keywords: phenylalanine hydroxylase; saudi arabia; hydroxylase; pah variants ... See more keywords
A noncoding RNA modulator potentiates phenylalanine metabolism in mice
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DOI: 10.1126/science.aba4991
Abstract: RNA solution for a genetic problem Phenylketonuria is a classic example of the benefit of newborn metabolic screening: It is a single-gene disease that can be detected at birth, and its neurological effects can be… read more here.
Keywords: noncoding rna; rna modulator; phenylalanine hydroxylase; modulator potentiates ... See more keywords
Abstract 672: A genetic defect in phenylalanine hydroxylase (PAH) affects the immune system in kidney
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DOI: 10.1158/1538-7445.am2023-672
Abstract: PAH, one of the genes associated with inborn error of metabolism (IEM), codes for phenylalanine hydroxylase and is specifically expressed in the liver and kidney. When PAH is dysfunctional, phenylalanine (Phe) cannot be converted to… read more here.
Keywords: kidney; phenylalanine hydroxylase; mice; pah ... See more keywords