(Q37695699)

English

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

scholarly article

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scholarly article

1 reference

Europe PubMed Central

22 August 2017

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

1 reference

Europe PubMed Central

22 August 2017

0 references

phenylketonuria

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

22 August 2017

Charles R. Scriver

11

object named as

Charles R Scriver

0 references

Sankar Surendran

object named as

Sankar Surendran

8

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Aurora Martinez

object named as

Aurora Martínez

13

0 references

Raymond C. Stevens

object named as

Raymond C Stevens

14

0 references

author name string

Heidi Erlandsen

1

1 reference

Europe PubMed Central

22 August 2017

Alejandra Gámez

3

1 reference

Europe PubMed Central

22 August 2017

Belén Pérez

4

1 reference

Europe PubMed Central

22 August 2017

Lourdes R Desviat

5

1 reference

Europe PubMed Central

22 August 2017

Cristina Aguado

6

1 reference

Europe PubMed Central

22 August 2017

Richard Koch

7

1 reference

Europe PubMed Central

22 August 2017

Stephen Tyring

9

1 reference

Europe PubMed Central

22 August 2017

Reuben Matalon

10

1 reference

Europe PubMed Central

22 August 2017

Magdalena Ugarte

12

1 reference

Europe PubMed Central

22 August 2017

language of work or name

0 references

publication date

19 November 2004

1 reference

Europe PubMed Central

22 August 2017

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

22 August 2017

101

1 reference

Europe PubMed Central

22 August 2017

48

1 reference

Europe PubMed Central

22 August 2017

16903-16908

1 reference

Europe PubMed Central

22 August 2017

The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

2.0A resolution crystal structures of the ternary complexes of human phenylalanine hydroxylase catalytic domain with tetrahydrobiopterin and 3-(2-thienyl)-L-alanine or L-norleucine...

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

The hph-1 mouse: a model for dominantly inherited GTP-cyclohydrolase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

Mechanism of dioxygen cleavage in tetrahydrobiopterin-dependent amino acid hydroxylases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

High resolution crystal structures of the catalytic domain of human phenylalanine hydroxylase in its catalytically active Fe(II) form and binary complex with tetrahydrobiopterin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

Genetic implications for newborn screening for phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

Crystal structure and site-specific mutagenesis of pterin-bound human phenylalanine hydroxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

The structural basis of phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

Monogenic traits are not simple: lessons from phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

Structural basis of autoregulation of phenylalanine hydroxylase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

Crystallographic analysis of the human phenylalanine hydroxylase catalytic domain with bound catechol inhibitors at 2.0 A resolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

Crystallography & NMR System: A New Software Suite for Macromolecular Structure Determination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

Structure/function relationships in human phenylalanine hydroxylase. Effect of terminal deletions on the oligomerization, activation and cooperativity of substrate binding to the enzyme.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

Improved methods for building protein models in electron density maps and the location of errors in these models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

6 September 2017

Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

28 September 2017

Recombinant human phenylalanine hydroxylase is a substrate for the ubiquitin-conjugating enzyme system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

23 June 2018

Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

Probing the role of crystallographically defined/predicted hinge-bending regions in the substrate-induced global conformational transition and catalytic activation of human phenylalanine hydroxylase by single-site mutagenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

Biopterin responsive phenylalanine hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

Probing cofactor specificity in phenylalanine hydroxylase by molecular dynamics simulations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency: possible regulation of gene expression in a patient with the homozygous L48S mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

Successful treatment of phenylketonuria with tetrahydrobiopterin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=534739

1 September 2018

Pterin-Dependent Amino Acid Hydroxylases

1 reference

https://pubmed.ncbi.nlm.nih.gov/15557004

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of reduced forms of biopterin in biological tissues and fluids

1 reference

https://pubmed.ncbi.nlm.nih.gov/15557004

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15557004

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biopterin cofactor biosynthesis: GTP cyclohydrolase, neopterin and biopterin in tissues and body fluids of mammalian species

1 reference

https://pubmed.ncbi.nlm.nih.gov/15557004

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/15557004

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The V388M Mutation Results in a Kinetic Variant Form of Phenylalanine Hydroxylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/15557004

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Oxygen-mediated inactivation of peptide deformylase

1 reference

https://pubmed.ncbi.nlm.nih.gov/15557004

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.0407256101

1 reference

Europe PubMed Central

22 August 2017

2004PNAS..10116903E

0 references

1 reference

Europe PubMed Central

22 August 2017

1 reference

Europe PubMed Central

22 August 2017

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