Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria (Q35079956)

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20 March 2020

title

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria (English)

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20 March 2020

0 references

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genotype-phenotype correlation

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2

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20 March 2020

Aurora Martinez

6

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20 March 2020

Nenad Blau

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20 March 2020

author name string

Sarah Wettstein

1

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20 March 2020

Belen Perez

3

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20 March 2020

Brian D Marsden

4

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20 March 2020

Wyatt W Yue

5

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20 March 2020

publication date

18 June 2014

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European Journal of Human Genetics

20 March 2020

published in

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20 March 2020

volume

23

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20 March 2020

issue

3

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20 March 2020

page(s)

302-309

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Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.

20 March 2020

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Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases

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

8 July 2018

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

8 July 2018

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Folding proteins in fatal ways

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

8 July 2018

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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

8 July 2018

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Monogenic traits are not simple: lessons from phenylketonuria

8 July 2018

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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

8 July 2018

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

8 July 2018

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

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

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Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans

8 July 2018

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Paired comparisons between early treated PKU children and their matched sibling controls on intelligence and school achievement test results at eight years of age.

8 July 2018

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

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Crossref

https://api.crossref.org/works/10.1038/EJHG.2014.114

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

21 January 2018

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12 December 2020

Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria

1 reference

12 December 2020

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12 December 2020

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

1 reference

12 December 2020

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

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12 December 2020

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/10.1038/EJHG.2014.114

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2014.114

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939588 AND SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24939588 AND SRC:MED&resulttype=core&format=json

20 March 2020

PubMed publication ID

24939588

1 reference