PAHdb 2003: what a locus-specific knowledgebase can do. (Q35091565)

6 August 2017

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title

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

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6 August 2017

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6 August 2017

Charles R Scriver

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author name string

Mélanie Hurtubise

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6 August 2017

David Konecki

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6 August 2017

Manyphong Phommarinh

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6 August 2017

Lynne Prevost

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6 August 2017

Heidi Erlandsen

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6 August 2017

Paula J Waters

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6 August 2017

Shannon Ryan

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6 August 2017

David McDonald

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6 August 2017

Christineh Sarkissian

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6 August 2017

publication date

1 April 2003

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6 August 2017

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6 August 2017

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6 August 2017

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6 August 2017

page(s)

333-344

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

6 August 2017

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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

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Mutational spectrum in German patients with phenylalanine hydroxylase deficiency

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Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations

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7 January 2021

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Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience

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

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Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene

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Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases

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Proof of "disease causing" mutation

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

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7 January 2021

Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis

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Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenyl-alaninemia in Southern Europe

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

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7 January 2021

Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).

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7 January 2021

Initial sequencing and analysis of the human genome

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7 January 2021

Human Phenylalanine Hydroxylase Mutations and Hyperphenylalaninemia Phenotypes: A Metanalysis of Genotype-Phenotype Correlations

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7 January 2021

Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations

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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

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7 January 2021

Structural basis of autoregulation of phenylalanine hydroxylase

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7 January 2021

Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene

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7 January 2021

A role for overdominant selection in phenylketonuria? Evidence from molecular data

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7 January 2021

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

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7 January 2021

Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase

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7 January 2021

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

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7 January 2021

Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase

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7 January 2021

EPR and 1H-NMR spectroscopic studies on the paramagnetic iron at the active site of phenylalanine hydroxylase and its interaction with substrates and inhibitors

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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

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7 January 2021

Science's neglected legacy

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7 January 2021

Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase

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7 January 2021

Characterization of mutations at the mouse phenylalanine hydroxylase locus

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7 January 2021

Molecular basis of phenotypic heterogeneity in phenylketonuria

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Human genetics: lessons from Quebec populations

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7 January 2021

Monogenic traits are not simple: lessons from phenylketonuria

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7 January 2021

PAHdb: a locus-specific knowledgebase.

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7 January 2021

Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

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7 January 2021

'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province

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7 January 2021

The Sequence of the Human Genome

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7 January 2021

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

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7 January 2021

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

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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

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7 January 2021

Is there a paradigm shift in genetics? Lessons from the study of human diseases

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7 January 2021

Phenylketonuria mutations in Europe

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7 January 2021

Phenylketonuria mutations in Germany

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https://api.crossref.org/works/10.1002%2FHUMU.10200

7 January 2021

Phenylketonuria and the peoples of Northern Ireland

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7 January 2021

Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis

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7 January 2021

Identifiers

DOI

10.1002/HUMU.10200

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6 August 2017

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