(Q24535755)

English

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

scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

neurotransmitter

1 reference

based on heuristic

inferred from title

hyperphenylalaninemia

1 reference

based on heuristic

inferred from title

author name string

Bonafé L

1

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Thöny B

2

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Penzien JM

3

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Czarnecki B

4

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Blau N

5

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

language of work or name

0 references

publication date

6 July 2001

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

69

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

269-277

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Tetrahydrobiopterin biosynthesis, regeneration and functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

24 March 2017

Sepiapterin reductase producing L-threo-dihydrobiopterin from Chlorobium tepidum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

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=1235302

24 March 2017

Cloning and sequencing of cDNA encoding human sepiapterin reductase--an enzyme involved in tetrahydrobiopterin biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

24 March 2017

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

24 March 2017

Genomic organization and chromosomal localization of the human sepiapterin reductase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

24 March 2017

Purification and properties of an NADPH-dependent carbonyl reductase from human brain. Relationship to prostaglandin 9-ketoreductase and xenobiotic ketone reductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

24 March 2017

The 1.25 A crystal structure of sepiapterin reductase reveals its binding mode to pterins and brain neurotransmitters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

24 March 2017

Isolation and expression of rat liver sepiapterin reductase cDNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

24 March 2017

Immunological evidence for the requirement of sepiapterin reductase for tetrahydrobiopterin biosynthesis in brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

24 March 2017

Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

27 September 2017

Carbonyl reductase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

27 September 2017

Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

27 September 2017

Dihydropteridine reductase deficiency localized to the central nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

27 September 2017

Sepiapterin reductase from horse liver: purification and properties of the enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

27 September 2017

Aldo-keto reductases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

27 September 2017

The enzyme that synthesizes tetrahydrobiopterin from 6-pyruvoyl-tetrahydropterin in the lemon mutant silkworm consists of two carbonyl reductases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

30 May 2018

Characterization of sepiapterin reductase activity from Drosophila melanogaster.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

30 May 2018

Mouse sepiapterin reductase: an enzyme involved in the final step of tetrahydrobiopterin biosynthesis. Primary structure deduced from the cDNA sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

30 May 2018

Immunohistochemical localisation of aldehyde and aldose reductase in human tissues.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

30 May 2018

Dihydrofolate reductase-activity in brain tissue. Effect of X-irradiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

30 May 2018

Coenzyme stimulation of isomerase activity of sepiapterin reductase in the biosynthesis of tetrahydrobiopterin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

30 May 2018

Immunological studies on the participation of 6-pyruvoyl tetrahydropterin (2'-oxo) reductase, an aldose reductase, in tetrahydrobiopterin biosynthesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

30 May 2018

New inhibitors of sepiapterin reductase. Lack of an effect of intracellular tetrahydrobiopterin depletion upon in vitro proliferation of two human cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

30 May 2018

Structure, chromosomal localization, and expression of the Drosophila melanogaster gene encoding sepiapterin reductase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

29 November 2018

Characterization of recombinant Dictyostelium discoideum sepiapterin reductase expressed in E. coli.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

29 November 2018

Cloning of mouse sepiapterin reductase gene and characterization of its promoter region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

29 November 2018

International database of tetrahydrobiopterin deficiencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

29 November 2018

Sepiapterin reductase and the biosynthesis of tetrahydrobiopterin in Drosophila melanogaster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

29 November 2018

Purification and characterization of human-brain aldose reductase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235302

29 November 2018

Purification and characterization of sepiapterin reductase from rat erythrocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human carbonyl reductases

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sepiapterin reductase exhibits a NADPH-dependent dicarbonyl reductase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carbonyl reductase activity of sepiapterin reductase from rat erythrocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isomerization of 6-lactoyl tetrahydropterin by sepiapterin reductase

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

On the role of sepiapterin reductase in the biosynthesis of tetrahydrobiopterin

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sepiapterin reductase in human amniotic and skin fibroblasts, chorionic villi, and various blood fractions

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Properties of carbonyl reductase activity of sepiapterin reductase, an enzyme involved in the biosynthesis of tetrahydrobiopterin

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dopa-responsive dystonia: some pieces of the puzzle are still missing

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human liver 6-pyruvoyl tetrahydropterin reductase is biochemically and immunologically indistinguishable from aldose reductase

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The complete amino acid sequence of the mature form of rat sepiapterin reductase

1 reference

https://pubmed.ncbi.nlm.nih.gov/11443547

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

ResearchGate publication ID

0 references

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