ArticleAmerican journal of human genetics2006
A murine model for human sepiapterin-reductase deficiency.
Article in American journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 75 citations in OpenAlex.
- Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.bioRxiv : the preprint server for biology · 2023Article
- Peripheralized sepiapterin reductase inhibition as a safe analgesic therapy.Frontiers in pharmacology · 2023Review
- Exploring the Mystery of the Tetrahydrobiopterin Synthetic Defect Lethal MutantInternational journal of molecular sciences · 2022Article
- An atlas of transcriptionally defined cell populations in the rat ventral tegmental area.Cell reports · 2022Article
- Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.Nature communications · 2021Article
- Dopamine and Neuroinflammation in Schizophrenia - Interpreting the Findings from Translocator Protein (18kDa) PET Imaging.Neuropsychiatric disease and treatment · 2021Review
- WSV056 Inhibits Shrimp Nitric Oxide Synthase Activity by DownregulatingFrontiers in microbiology · 2021Article
- Tetrahydrobioterin (BH4) Pathway: From Metabolism to Neuropsychiatry.Current neuropharmacology · 2021Review
- Sepiapterin reductase: Characteristics and role in diseases.Journal of cellular and molecular medicine · 2020Review
- Evaluation of the silkwormRoyal Society open science · 2020Article
- Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem.Pediatric research · 2018Article
- Tetrahydrobiopterin in antenatal brain hypoxia-ischemia-induced motor impairments and cerebral palsy.Redox biology · 2017Review
- What Gene Mutations Affect Serotonin in Mice?ACS chemical neuroscience · 2017Article
- Article
- Sepiapterin reductase gene-disrupted mice suffer from hypertension with fluctuation and bradycardia.Physiological reports · 2017Article
- Sulfa drugs inhibit sepiapterin reduction and chemical redox cycling by sepiapterin reductase.The Journal of pharmacology and experimental therapeutics · 2015Article
- Association study of sepiapterin reductase gene promoter polymorphisms with schizophrenia in a Han Chinese population.Neuropsychiatric disease and treatment · 2015Article
- Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.JIMD reports · 2015Article
- Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells.The Journal of biological chemistry · 2013Article
- Amelioration of behavioral abnormalities in BH(4)-deficient mice by dietary supplementation of tyrosine.PloS one · 2013Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
Tetrahydrobiopterin (BH(4)) is an essential cofactor for several enzymes, including all three forms of nitric oxide synthases, the three aromatic hydroxylases, and glyceryl-ether mono-oxygenase. A proper level of BH(4) is, therefore, necessary for the metabolism of phenylalanine and the production of nitric oxide, catecholamines, and serotonin. BH(4) deficiency has been shown to be closely associated with diverse neurological psychiatric disorders. Sepiapterin reductase (SPR) is an enzyme that catalyzes the final step of BH(4) biosynthesis. Whereas the number of cases of neuropsychological disorders resulting from deficiencies of other catalytic enzymes involved in BH(4) biosynthesis and metabolism has been increasing, only a handful of cases of SPR deficiency have been reported, and the role of SPR in BH(4) biosynthesis in vivo has been poorly understood. Here, we report that mice deficient in the Spr gene (Spr(-/-)) display disturbed pterin profiles and greatly diminished levels of dopamine, norepinephrine, and serotonin, indicating that SPR is essential for homeostasis of BH(4) and for the normal functions of BH(4)-dependent enzymes. The Spr(-/-) mice exhibit phenylketonuria, dwarfism, and impaired body movement. Oral supplementation of BH(4) and neurotransmitter precursors completely rescued dwarfism and phenylalanine metabolism. The biochemical and behavioral characteristics of Spr(-/-) mice share striking similarities with the symptoms observed in SPR-deficient patients. This Spr mutant strain of mice will be an invaluable resource to elucidate many important issues regarding SPR and BH(4) deficiencies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.