A murine model for human sepiapterin-reductase deficiency (Q28510192)

6 July 2017

title

A murine model for human sepiapterin-reductase deficiency (English)

1 reference

6 July 2017

main subject

Sepiapterin reductase

1 reference

sepiapterin reductase deficiency

GOA release 2020-03-11

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1 reference

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Jin-Man Kim

1 reference

6 July 2017

Seungkyoung Yang

1 reference

6 July 2017

Young Jae Lee

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6 July 2017

Sean Park

1 reference

6 July 2017

Joanna Peris

1 reference

6 July 2017

Philip Laipis

1 reference

6 July 2017

Young Shik Park

1 reference

6 July 2017

Jae Hoon Chung

1 reference

6 July 2017

S Paul Oh

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6 July 2017

language of work or name

English

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publication date

31 January 2006

1 reference

American Journal of Human Genetics

6 July 2017

published in

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6 July 2017

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6 July 2017

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6 July 2017

page(s)

575-587

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Pulmonary hypertension in a GTP-cyclohydrolase 1-deficient mouse

6 July 2017

cites work

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19 March 2017

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Disruption of the D2 dopamine receptor alters GH and IGF-I secretion and causes dwarfism in male mice

19 March 2017

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

19 March 2017

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19 March 2017

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19 March 2017

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19 March 2017

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

19 March 2017

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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).

19 March 2017

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19 March 2017

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19 March 2017

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

19 March 2017

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19 March 2017

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Pivotal role for endothelial tetrahydrobiopterin in pulmonary hypertension

7 April 2017

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29 September 2017

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Relevance of oxidative injury in the pathogenesis of motor neuron diseases

29 September 2017

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From molecules to mammals: what's NOS got to do with it?

29 September 2017

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29 September 2017

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

29 September 2017

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The neuropathology of phenylketonuria: human and animal studies

29 September 2017

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

29 September 2017

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Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene

29 September 2017

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29 September 2017

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Northern hybridization: rapid and simple electrophoretic conditions

29 September 2017

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29 September 2017

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2 June 2018

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

2 June 2018

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

2 June 2018

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

2 June 2018

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2 June 2018

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2 June 2018

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

27 November 2018

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Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

27 November 2018

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A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study

27 November 2018

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Tetrahydrobiopterin Prevents Nitration of Tyrosine Hydroxylase by Peroxynitrite and Nitrogen Dioxide

27 November 2018

1 reference

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Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424682

Catecholamines and serotonin are differently regulated by tetrahydrobiopterin. A study from 6-pyruvoyltetrahydropterin synthase knockout mice

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424682

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424682

Insulin-like growth factor-I affects perinatal lethality and postnatal development in a gene dosage-dependent manner: manipulation using the Cre/loxP system in transgenic mice.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424682

International database of tetrahydrobiopterin deficiencies

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1424682

Differences between humans and mice in efficacy of the body fat lowering effect of conjugated linoleic acid: role of metabolic rate

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16532389

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Radioimmunoassay for insulin-like growth factor-I: solutions to some potential problems and pitfalls

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16532389

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/501372

1 reference

6 July 2017

1 reference

6 July 2017

1 reference