(Q80135949)

English

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

scientific article published on 01 September 2006

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scholarly article

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Europe PubMed Central

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29 December 2019

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase (English)

1 reference

Europe PubMed Central

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29 December 2019

2

1 reference

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29 December 2019

author name string

Beat Thöny

1

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29 December 2019

publication date

1 September 2006

1 reference

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29 December 2019

1 reference

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29 December 2019

27

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29 December 2019

9

1 reference

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29 December 2019

870-878

1 reference

Europe PubMed Central

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29 December 2019

A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Hearing silence: non-neutral evolution at synonymous sites in mammals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Primapterin, anapterin, and 6-oxo-primapterin, three new 7-substituted pterins identified in a patient with hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Tetrahydrobiopterin is synthesized from 6-pyruvoyl-tetrahydropterin by the human aldo-keto reductase AKR1 family members

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Some metabolic relationships between biopterin and folate: Implications for the ?methyl trap hypothesis?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic variants in exons and introns: identifying the splicing spoilers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical and structural basis for partially redundant enzymatic and transcriptional functions of DCoH and DCoH2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of dihydropteridine reductase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

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://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

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).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Tetrahydrobiopterin biosynthesis, regeneration and functions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20366

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20366

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917893%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16917893%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

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