(Q34251498)

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Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.

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21 January 2020

Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300847%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

electrospray ionization

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Aurora Martinez

3

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21 January 2020

5

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21 January 2020

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Caroline Heintz

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21 January 2020

Heinz Troxler

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21 January 2020

Beat Thöny

4

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21 January 2020

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12 January 2012

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21 January 2020

Molecular Genetics and Metabolism

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21 January 2020

105

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21 January 2020

4

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21 January 2020

559-565

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21 January 2020

Phenylketonuria

1 reference

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7 January 2021

Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.

1 reference

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7 January 2021

Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases

1 reference

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7 January 2021

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability

1 reference

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7 January 2021

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

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Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency

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PAHdb: a locus-specific knowledgebase.

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In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function

1 reference

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7 January 2021

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

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7 January 2021

Gene transfer and expression of human phenylalanine hydroxylase

1 reference

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7 January 2021

Rat liver phenylalanine hydroxylase. A method for the measurement of activity, with particular reference to the distinctive features of the enzyme and the pteridine cofactor

1 reference

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7 January 2021

Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Isolation and characterization of the wild-type enzyme

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7 January 2021

A simple radioisotope assay for phenylalanine hydroxylase cofactor

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7 January 2021

An assay for picomole levels of tyrosine and related phenols and its application to the measurement of phenylalanine hydroxylase activity

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7 January 2021

Activation of Phenylalanine Hydroxylase Induces Positive Cooperativity toward the Natural Cofactor

1 reference

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7 January 2021

Analysis of the effect of tetrahydrobiopterin on PAH gene expression in hepatoma cells

1 reference

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7 January 2021

Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin

1 reference

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7 January 2021

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

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7 January 2021

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population

1 reference

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7 January 2021

Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria

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7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

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7 January 2021

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

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7 January 2021

PAHdb 2003: what a locus-specific knowledgebase can do.

1 reference

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7 January 2021

In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation

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7 January 2021

Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues

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Distribution of phenylalanine hydroxylase (EC 1.14.3.1) in liver and kidney of vertebrates

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Phenylalanine hydroxylase activity in mammalian cells.

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Comparison of epidermal keratinocytes and dermal fibroblasts as potential target cells for somatic gene therapy of phenylketonuria

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7 January 2021

In vivo evidence for compromised phenylalanine metabolism in vitiligo

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The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response

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7 January 2021

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