(Q45087065)

9 December 2017

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations (English)

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9 December 2017

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1

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9 December 2017

8

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9 December 2017

Aurora Martínez

11

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author name string

Belén Pérez

2

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9 December 2017

Lourdes R Desviat

3

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9 December 2017

Maria Angeles Martínez

4

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9 December 2017

Cristina Aguado

5

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9 December 2017

Heidi Erlandsen

6

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9 December 2017

Alejandra Gámez

7

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9 December 2017

Matthías Thórólfsson

9

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9 December 2017

Magdalena Ugarte

10

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9 December 2017

1 November 2004

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9 December 2017

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9 December 2017

24

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9 December 2017

5

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9 December 2017

388-399

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Crystal structure of the ternary complex of the catalytic domain of human phenylalanine hydroxylase with tetrahydrobiopterin and 3-(2-thienyl)-L-alanine, and its implications for the mechanism of catalysis and substrate activation

9 December 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Ferrous ion binding to recombinant human H-chain ferritin. An isothermal titration calorimetry study.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20097

Win some, lose some: enthalpy-entropy compensation in weak intermolecular interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Essential role of the N-terminal autoregulatory sequence in the regulation of phenylalanine hydroxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Pterin-Dependent Amino Acid Hydroxylases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Spectroscopic and kinetic studies of PKU-inducing mutants of phenylalanine hydroxylase: Arg158Gln and Glu280Lys

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Structural basis of autoregulation of phenylalanine hydroxylase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Direct measurement of protein binding energetics by isothermal titration calorimetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Tetrahydrobiopterin and Mild Phenylketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Studies on the regulatory properties of the pterin cofactor and dopamine bound at the active site of human phenylalanine hydroxylase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

The structural basis of the recognition of phenylalanine and pterin cofactors by phenylalanine hydroxylase: implications for the catalytic mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

Activation of phenylalanine hydroxylase: effect of substitutions at Arg68 and Cys237.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased K(m)): relevance to genetic disease and polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

7 January 2021

The auto-oxidation of tetrahydrobiopterin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

7 January 2021

Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

7 January 2021

Modulation of inducible nitric oxide synthase mRNA stability by tetrahydrobiopterin in vascular smooth muscle cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

7 January 2021

Studies on the interaction of a thiol-dependent hydrogen peroxide scavenging enzyme and phenylalanine hydroxylase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

7 January 2021

Coordinate regulation of tetrahydrobiopterin turnover and phenylalanine hydroxylase activity in rat liver cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

7 January 2021

Oxygen-mediated inactivation of peptide deformylase

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https://api.crossref.org/works/10.1002%2FHUMU.20097

7 January 2021

A hypothesis on the biochemical mechanism of BH(4)-responsiveness in phenylalanine hydroxylase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

7 January 2021

Probing cofactor specificity in phenylalanine hydroxylase by molecular dynamics simulations

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https://api.crossref.org/works/10.1002%2FHUMU.20097

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

7 January 2021

Rapid measurement of binding constants and heats of binding using a new titration calorimeter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20097

7 January 2021

Identifiers

DOI

10.1002/HUMU.20097

1 reference

9 December 2017

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