How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression (Q34185859)

31 July 2017

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title

How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression (English)

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31 July 2017

Paula J Waters

1

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31 July 2017

1 April 2003

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31 July 2017

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31 July 2017

21

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31 July 2017

4

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31 July 2017

357-369

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Roles of molecular chaperones in cytoplasmic protein folding

31 July 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.10197

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

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Understanding gene and allele function with two-hybrid methods.

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https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Protein processing: a role in the pathophysiology of genetic disease.

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https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Protein misfolding and degradation in genetic diseases.

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https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Correcting temperature-sensitive protein folding defects

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https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

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https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria

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https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Domain structure and stability of human phenylalanine hydroxylase inferred from infrared spectroscopy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Phenylketonuria splice mutation (EXON6nt-96A-->g) masquerading as missense mutation (Y204C)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Diverse PAH transcripts in lymphocytes of PKU patients with putative nonsense (G272X, Y356X) and missense (P281L, R408Q) mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

The structural basis of phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Correlation of two-hybrid affinity data with in vitro measurements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

A novel genetic system to detect protein-protein interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

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.10197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

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https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Principles for the buffering of genetic variation

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https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Structure/function analysis of the domains required for the multimerisation of phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Functional Analysis, Using in Vitro Mutagenesis, of Amino Acids Located in the Phenylalanine Hydroxylase Active Site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Escherichia coli maltose-binding protein is uncommonly effective at promoting the solubility of polypeptides to which it is fused

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Urea-induced denaturation of human phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Structural basis of autoregulation of phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Gene transfer and expression of human phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

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.10197

7 January 2021

Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Molecular basis of phenotypic heterogeneity in phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Monogenic traits are not simple: lessons from phenylketonuria

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https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

PAHdb: a locus-specific knowledgebase.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Unfolding the role of chaperones and chaperonins in human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Relationship between genotype and phenotype in monogenic diseases: Relevance to polygenic diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

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.10197

7 January 2021

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Antagonists to the rescue

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https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Posttranslational quality control: folding, refolding, and degrading proteins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10197

7 January 2021

Identifiers

DOI

10.1002/HUMU.10197

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31 July 2017

1 reference

PubMed ID

12655545