(Q24538999)

English

Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).

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scholarly article

1 reference

Europe PubMed Central

6 July 2017

Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). (English)

1 reference

Europe PubMed Central

6 July 2017

hyperphenylalaninemia

1 reference

based on heuristic

inferred from title

object named as

N Blau

9

0 references

author name string

B Thöny

1

1 reference

Europe PubMed Central

6 July 2017

F Neuheiser

2

1 reference

Europe PubMed Central

6 July 2017

L Kierat

3

1 reference

Europe PubMed Central

6 July 2017

M Blaskovics

4

1 reference

Europe PubMed Central

6 July 2017

P H Arn

5

1 reference

Europe PubMed Central

6 July 2017

P Ferreira

6

1 reference

Europe PubMed Central

6 July 2017

I Rebrin

7

1 reference

Europe PubMed Central

6 July 2017

J Ayling

8

1 reference

Europe PubMed Central

6 July 2017

language of work or name

0 references

publication date

1 June 1998

1 reference

Europe PubMed Central

6 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

6 July 2017

62

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Europe PubMed Central

6 July 2017

1302-1311

1 reference

Europe PubMed Central

6 July 2017

6

1 reference

Europe PubMed Central

6 July 2017

Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

Characterization of a Cofactor That Regulates Dimerization of a Mammalian Homeodomain Protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

Regulation of the HNF-1 homeodomain proteins by DCoH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

7 April 2017

Molecular basis of dihydropteridine reductase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

Identity of 4a-carbinolamine dehydratase, a component of the phenylalanine hydroxylation system, and DCoH, a transregulator of homeodomain proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

24 March 2017

Regulation of melanin biosynthesis in the human epidermis by tetrahydrobiopterin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

27 September 2017

New tetrahydrobiopterin-dependent systems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

27 September 2017

The hyperphenylalaninemias of man and mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

27 September 2017

Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

27 September 2017

Catalytic characterization of 4a-hydroxytetrahydropterin dehydratase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

30 May 2018

Human pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor-1 alpha. Characterization and kinetic analysis of wild-type and mutant enzymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

30 May 2018

Primapterinuria: a new variant of atypical phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

30 May 2018

Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377166

30 May 2018

A new variant of biopterin deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9585615

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

7-Substituted pterins: formation during phenylalanine hydroxylation in the absence of dehydratase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9585615

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective tetrahydrobiopterin and catecholamine biosynthesis in the depigmentation disorder vitiligo

1 reference

https://pubmed.ncbi.nlm.nih.gov/9585615

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Location of the active site and proposed catalytic mechanism of pterin-4a-carbinolamine dehydratase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9585615

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/9585615

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mechanism of cofactor regeneration during phenylalanine hydroxylation.

1 reference

https://api.crossref.org/works/10.1086%2F301887

7 January 2021

based on heuristic

inferred from DOI database lookup

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Europe PubMed Central

6 July 2017

1 reference

Europe PubMed Central

6 July 2017

1 reference

Europe PubMed Central

6 July 2017

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