(Q34281006)

1 August 2017

1 reference

title

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

1 reference

1 August 2017

1 reference

Erlandsen H

1

1 reference

PubMed ID

11405341

1 August 2017

Stevens RC

series ordinal

2

1 reference

1 August 2017

1 April 2001

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Journal of Inherited Metabolic Disease

1 August 2017

1 reference

1 August 2017

24

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1 August 2017

2

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1 August 2017

213-230

1 reference

https://scigraph.springernature.com/pub.10.1023/a:1010371002631

1 August 2017

0 references

cites work

Redesigning the substrate specificity of an enzyme by cumulative effects of the mutations of non-active site residues

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12 December 2020

Phenylketonuria missense mutations in the Mediterranean

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12 December 2020

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations

1 reference

12 December 2020

PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems

1 reference

12 December 2020

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

1 reference

12 December 2020

A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase

1 reference

12 December 2020

Molecular basis of phenotypic heterogeneity in phenylketonuria

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12 December 2020

Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts

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12 December 2020

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

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12 December 2020

Evidence on close packing and cavities in proteins.

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12 December 2020

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

1 reference

12 December 2020

Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features

1 reference

12 December 2020

Crystallization and preliminary diffraction analysis of a truncated homodimer of human phenylalanine hydroxylase.

1 reference

12 December 2020

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

12 December 2020

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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12 December 2020

PAHdb: a locus-specific knowledgebase.

1 reference

12 December 2020

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

1 reference

12 December 2020

The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency

1 reference

12 December 2020

The structural basis of phenylketonuria

1 reference

12 December 2020

Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype–phenotype correlations in phenylketonuria

1 reference

12 December 2020

Mutational analysis of the tetrahydrobiopterin-binding site in inducible nitric-oxide synthase.

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12 December 2020

Reversal of hypopigmentation in phenylketonuria mice by adenovirus-mediated gene transfer

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12 December 2020

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

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12 December 2020

Thermodynamic analysis of cavity creating mutations in an engineered leucine zipper and energetics of glycerol-induced coiled coil stabilization

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12 December 2020

Structural basis of autoregulation of phenylalanine hydroxylase

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12 December 2020

Raster3D: photorealistic molecular graphics

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12 December 2020

Mutational, kinetic, and NMR studies of the roles of conserved glutamate residues and of lysine-39 in the mechanism of the MutT pyrophosphohydrolase

1 reference

12 December 2020

Context-dependence of amino acid residue pairing in antiparallel beta-sheets

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12 December 2020

A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia.

1 reference

12 December 2020

Founder effect of a prevalent phenylketonuria mutation in the Oriental population

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12 December 2020

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

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12 December 2020

MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1010371002631

7 January 2021

inferred from DOI database lookup

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

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1010371002631

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1010371002631

1 reference

PubMed ID

11405341

Dimensions Publication ID

1 August 2017

0 references

1 reference

PubMed ID

11405341