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Priapism caused by partial deficiency of tetrahydrobiopterin through hypofunction of the sympathetic neurons in sepiapterin reductase gene‐disrupted mice

Journal of inherited metabolic disease, 2022-05, Vol.45 (3), p.621-634

2022

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Virtual screening to identify potent sepiapterin reductase inhibitors

Bioorganic & medicinal chemistry letters, 2020-01, Vol.30 (2), p.126793-126793, Article 126793

2020

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Elevated expression of sepiapterin reductase, regulator of G protein signaling 1, hypothetical protein CXorf58 homolog, and zinc finger and BTB domain–containing protein 21 isoform X2 is associated with progression of hepatocellular carcinoma

Protoplasma, 2021-09, Vol.258 (5), p.1133-1143

2021

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Biosynthesis of Pteridines in Insects: A Review

Insects (Basel, Switzerland), 2024-05, Vol.15 (5), p.370

Ferre, Juan

2024

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Cerebrospinal Fluid Biogenic Monoamine Analysis for Diagnosis of Primary Neurotransmitter Disorders

Indian journal of pediatrics, 2021-12, Vol.88 (12), p.1241-1243

2021

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Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

International journal of molecular sciences, 2017-11, Vol.18 (11), p.2294

2017

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Approaches for diagnosis and treatment in neurotransmitter disorders of childhood

Metabolic brain disease, 2021-12, Vol.36 (8), p.2255-2262

2021

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Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

Molecular genetics and metabolism, 2015-08, Vol.115 (4), p.157-160

2015

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Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism-From Past to Future

Cells (Basel, Switzerland), 2019-08, Vol.8 (8), p.867

2019

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Valproic acid exposure leads to upregulation and increased promoter histone acetylation of sepiapterin reductase in a serotonergic cell line

Neuropharmacology, 2015-12, Vol.99, p.79-88

2015

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Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran

Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2294-n/a

2024

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Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

Scientific reports, 2017-11, Vol.7 (1), p.14675-9, Article 14675

2017

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Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency

Royal Society open science, 2020-03, Vol.7 (3), p.191888-191888

2020

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Far-Infrared-Emitting Sericite Board Upregulates Endothelial Nitric Oxide Synthase Activity through Increasing Biosynthesis of Tetrahydrobiopterin in Endothelial Cells

Evidence-based complementary and alternative medicine, 2019, Vol.2019 (2019), p.1-9

2019

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Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia—A Focus on Tyrosine Hydroxylase Deficiency

Journal of personalized medicine, 2021-11, Vol.11 (11), p.1186

2021

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Novel Interaction of Ornithine Decarboxylase with Sepiapterin Reductase Regulates Neuroblastoma Cell Proliferation

Journal of molecular biology, 2014-01, Vol.426 (2), p.332-346

2014

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Persistently Upregulated Hippocampal mTOR Signals Mediated by Fecal SCFAs Impair Memory in Male Pups with SMM Exposure in Utero

Biomedical and environmental sciences, 2019-05, Vol.32 (5), p.345-356

2019

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Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR

BMC medical genetics, 2016-09, Vol.17 (1), p.65-65, Article 65

2016

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Possibility of the Nonenzymatic Conversion of 6-(1'-Oxo-2'-hydroxypropyl)- Tetrahydropterin to Sepiapterin

Pteridines, 2005-02, Vol.16 (1), p.11-14

2005

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De novo tetrahydrobiopterin biosynthesis is impaired in the inflammed striatum of parkin(−/−) mice

Cell biology international, 2018-06, Vol.42 (6), p.725-733

2018

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Sepiapterin reductase deficiency: Report of 5 new cases

European journal of paediatric neurology, 2017-05, Vol.21 (3), p.583-586

2017

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Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene

Acta neurologica Scandinavica, 2014-04, Vol.129 (s198), p.7-12

2014

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Protein Inhibitor of NOS1 Plays a Central Role in the Regulation of NOS1 Activity in Human Dilated Hearts

Scientific reports, 2016-08, Vol.6 (1), p.30902-30902, Article 30902

2016

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Combining Human and Rodent Genetics to Identify New Analgesics

Neuroscience bulletin, 2018-02, Vol.34 (1), p.143-155

2018

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Investigation of a potential role for aldose reductase AlrA in tetrahydropteridine synthesis in Dictyostelium discoideum Ax2

Pteridines, 2017-08, Vol.28 (2), p.97-103

2017

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Priapism caused by partial deficiency of tetrahydrobiopterin through hypofunction of the sympathetic neurons in sepiapterin reductase gene‐disrupted mice

Virtual screening to identify potent sepiapterin reductase inhibitors

Elevated expression of sepiapterin reductase, regulator of G protein signaling 1, hypothetical protein CXorf58 homolog, and zinc finger and BTB domain–containing protein 21 isoform X2 is associated with progression of hepatocellular carcinoma

Biosynthesis of Pteridines in Insects: A Review

Cerebrospinal Fluid Biogenic Monoamine Analysis for Diagnosis of Primary Neurotransmitter Disorders

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

Approaches for diagnosis and treatment in neurotransmitter disorders of childhood

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism-From Past to Future

Valproic acid exposure leads to upregulation and increased promoter histone acetylation of sepiapterin reductase in a serotonergic cell line

Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency

Far-Infrared-Emitting Sericite Board Upregulates Endothelial Nitric Oxide Synthase Activity through Increasing Biosynthesis of Tetrahydrobiopterin in Endothelial Cells

Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia—A Focus on Tyrosine Hydroxylase Deficiency

Novel Interaction of Ornithine Decarboxylase with Sepiapterin Reductase Regulates Neuroblastoma Cell Proliferation

Persistently Upregulated Hippocampal mTOR Signals Mediated by Fecal SCFAs Impair Memory in Male Pups with SMM Exposure in Utero

Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR

Possibility of the Nonenzymatic Conversion of 6-(1'-Oxo-2'-hydroxypropyl)- Tetrahydropterin to Sepiapterin

De novo tetrahydrobiopterin biosynthesis is impaired in the inflammed striatum of parkin(−/−) mice

Sepiapterin reductase deficiency: Report of 5 new cases

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene

Protein Inhibitor of NOS1 Plays a Central Role in the Regulation of NOS1 Activity in Human Dilated Hearts

Combining Human and Rodent Genetics to Identify New Analgesics

Investigation of a potential role for aldose reductase AlrA in tetrahydropteridine synthesis in Dictyostelium discoideum Ax2

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