(Q36223970)

12 August 2017

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title

Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients (English)

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12 August 2017

Belén Pérez

1

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12 August 2017

Lourdes R Desviat

2

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12 August 2017

Paulino Gómez-Puertas

3

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12 August 2017

Aurora Martínez

4

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12 August 2017

Rymond C Stevens

5

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12 August 2017

Magdalena Ugarte

6

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12 August 2017

language of work or name

1 reference

8 August 2005

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Molecular Genetics and Metabolism

12 August 2017

published in

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12 August 2017

volume

86 Suppl 1

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12 August 2017

page(s)

S11-6

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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

12 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

Biopterin responsive phenylalanine hydroxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

Structural basis of autoregulation of phenylalanine hydroxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

Pterin-Dependent Amino Acid Hydroxylases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

Protein structure comparison by alignment of distance matrices

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

A fully automatic evolutionary classification of protein folds: Dali Domain Dictionary version 3

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.06.009

10.1016/J.YMGME.2005.06.009

7 January 2021

Identifiers

DOI

1 reference

12 August 2017

1 reference