Evaluation of the silkworm lemon mutant as an invertebrate animal model for human sepiapterin reductase deficiency [PDF]
Royal Society Open Science, 2020 Human sepiapterin reductase (SR) deficiency is an inherited disease caused by SPR gene mutations and is a monoamine neurotransmitter disorder. Here, we investigated whether the silkworm lemon mutant could serve as a model of SR deficiency.
Guihua Jiang +4 more
doaj +4 more sources
Follow-up and outcome of patients with primary BH4 deficiencies [PDF]
Frontiers in NeurologyBH4 deficiencies may occur with or without hyperphenylalaninemia (HPA). If identified early through neonatal screening for PKU, the clinical follow-up aims to prevent the onset of typical disease symptoms.
Francesca Nardecchia +10 more
doaj +2 more sources
Diagnosis and Treatment of Sepiapterin Reductase Deficiency
Pediatric Neurology Briefs, 2006 The diagnosis and long-term effects of treatment of two cases of sepiapterin reductase deficiency (SRD) are reported from Service de Neuropediatrie, CHU Montpellier, France; University de Sherbrooke, Quebec, Canada; and centers in Germany and Switzerland.
J Gordon Millichap
doaj +3 more sources
Dopa-Responsive Motor Disorder with Sepiapterin Reductase Deficiency
Pediatric Neurology Briefs, 2005 The clinical findings in 7 children from Malta, at first suspected to have cerebral palsy and later diagnosed with sepiapterin reductase deficiency, are reported from Great Ormond Street Hospital, London, UK, and St Luke’s Hospital, University of Malta.
J Gordon Millichap
doaj +3 more sources
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency [PDF]
JIMD Reports, 2015 Matthias Zielonka +2 more
exaly +2 more sources
Endothelium-specific sepiapterin reductase deficiency in DOCA-salt hypertension
American Journal of Physiology - Heart and Circulatory Physiology, 2012 John E A Blair +2 more
exaly +2 more sources
Biopterin metabolism and eNOS expression during hypoxic pulmonary hypertension in mice. [PDF]
PLoS ONE, 2013 Tetrahydrobiopterin (BH4), which fosters the formation of and stabilizes endothelial NO synthase (eNOS) as an active dimer, tightly regulates eNOS coupling / uncoupling.
Mathilde Dubois +12 more
doaj +1 more source
Frontiers in Microbiology, 2021 Sepiapterin reductase (Spr) plays an essential role in the biosynthesis of tetrahydrobiopterin (BH4), a key cofactor of multiple enzymes involved in various physiological and immune processes.
Wei Wang +5 more
doaj +1 more source
Tetrahydrobiopterin deficiencies: Lesson from clinical experience
JIMD Reports, 2021 Objectives The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow‐up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects.
Ayse Ergul Bozaci +10 more
doaj +1 more source
A fat-derived metabolite regulates a peptidergic feeding circuit in Drosophila. [PDF]
PLoS Biology, 2017 Here, we show that the enzymatic cofactor tetrahydrobiopterin (BH4) inhibits feeding in Drosophila. BH4 biosynthesis requires the sequential action of the conserved enzymes Punch, Purple, and Sepiapterin Reductase (Sptr).
Do-Hyoung Kim +4 more
doaj +1 more source