A Murine Model for Human Sepiapterin-Reductase Deficiency

2006/03/07 by Seungkyoung Yang, Young Jae Lee, Jin-Man Kim +9 · 17 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Metabolism and Genetic Disorders #Diet and metabolism studies #Hyperglycemia and glycemic control in critically ill and hospitalized patients

paper · pdf · doi:10.1086/501372

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• A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood
• Sepiapterin reductase expression is increased in Parkinson's disease brain tissue. [europepmc]
• GCH1, BH4 and pain. [europepmc]
• Autophagy induction by tetrahydrobiopterin deficiency. [europepmc]
• Aromatic L-amino acid decarboxylase (AADC) is crucial for brain development and motor functions. [europepmc]
• Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency. [europepmc]
• What Gene Mutations Affect Serotonin in Mice? [europepmc]
• Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency. [europepmc]
• Sepiapterin reductase: Characteristics and role in diseases. [europepmc]
• Tetrahydrobioterin (BH4) Pathway: From Metabolism to Neuropsychiatry. [europepmc]
• Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines. [europepmc]
• Dopamine and Neuroinflammation in Schizophrenia - Interpreting the Findings from Translocator Protein (18kDa) PET Imaging. [europepmc]
• WSV056 Inhibits Shrimp Nitric Oxide Synthase Activity by Downregulating Litopenaeus vannamei Sepiapterin Reductase to Promote White Spot Syndrome Virus Replication. [europepmc]
• An atlas of transcriptionally defined cell populations in the rat ventral tegmental area. [europepmc]
• Exploring the Mystery of the Tetrahydrobiopterin Synthetic Defect Lethal Mutant lem l from Birth to Death in the Silkworm Bombyx mori . [europepmc]
• Peripheralized sepiapterin reductase inhibition as a safe analgesic therapy. [europepmc]
• Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons [europepmc]