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Sepiapterin reductase

sepiapterin reductase
This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, STEP, CAN, V1a, HAD
Papers on sepiapterin reductase
Tetrahydrobiopterin Biosynthesis as a Potential Target of the Kynurenine Pathway Metabolite Xanthurenic Acid.
Johnsson et al., Lausanne, Switzerland. In J Biol Chem, Feb 2016
Here we show that xanthurenic acid is a potent inhibitor of sepiapterin reductase (SPR), the final enzyme in de novo BH4 synthesis.
Valproic acid exposure leads to upregulation and increased promoter histone acetylation of sepiapterin reductase in a serotonergic cell line.
Kennedy et al., Christchurch, New Zealand. In Neuropharmacology, Dec 2015
In a rat serotonergic cell line (RN46A) we observed that VPA exposure has a strong upregulatory effect on the gene for sepiapterin reductase (SPR), a key enzyme involved in the tetrahydrobiopterin (BH4) synthetic pathway.
Clinical Use of CSF Neurotransmitters.
Pearl et al., Boston, United States. In Pediatr Neurol, Oct 2015
CONCLUSIONS: Lumbar puncture is required to detect abnormal cerebrospinal fluid metabolites in a significant proportion of these disorders, including treatable entities such as dopa-responsive deficiencies of guanosine-5'-triphosphate cyclohydrolase I (Segawa disease), sepiapterin reductase, and tyrosine hydroxylase.
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
Leuzzi et al., Roma, Italy. In Mol Genet Metab, Aug 2015
Sepiapterin reductase deficiency (SRD) causes depletion of biogenic amines in the brain, early onset motor disorder, and intellectual disability.
Sepiapterin Reductase Deficiency
Friedman, Seattle, United States. In Unknown Journal, Aug 2015
DIAGNOSIS/TESTING: The diagnosis of sepiapterin reductase deficiency is established in a proband by detection of biallelic pathogenic variants in SPR on molecular genetic testing or characteristic abnormalities of CSF neurotransmitters and pterins.
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Jankovic et al., Houston, United States. In Nat Rev Neurol, Jul 2015
Autosomal dominant GTP cyclohydrolase 1 deficiency, also known as Segawa disease, is the most common and best-characterized condition that manifests as DRD, but a similar presentation can be seen with genetic abnormalities that lead to deficiencies in tyrosine hydroxylase, sepiapterin reductase or other enzymes that are involved in the biosynthesis of dopamine.
Reduction of Neuropathic and Inflammatory Pain through Inhibition of the Tetrahydrobiopterin Pathway.
Woolf et al., Boston, United States. In Neuron, Jul 2015
To minimize risk of side effects, we targeted sepiapterin reductase (SPR), whose blockade allows minimal BH4 production through the BH4 salvage pathways.
Sulfa drugs inhibit sepiapterin reduction and chemical redox cycling by sepiapterin reductase.
Laskin et al., Valhalla, United States. In J Pharmacol Exp Ther, Mar 2015
Sepiapterin reductase (SPR) catalyzes the reduction of sepiapterin to dihydrobiopterin (BH2), the precursor for tetrahydrobiopterin (BH4), a cofactor critical for nitric oxide biosynthesis and alkylglycerol and aromatic amino acid metabolism.
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials.
de Lonlay et al., Paris, France. In Jimd Rep, 2014
UNLABELLED: Objective/context: We describe the second patient presenting the combination of two homoallelic homozygous nonsense mutations in two genes distant from 1.8 Mb in the chromosome 2p13-3, the methylmalonyl-CoA epimerase gene (MCEE) and the sepiapterin reductase gene (SPR).
Association study of sepiapterin reductase gene promoter polymorphisms with schizophrenia in a Han Chinese population.
Li et al., Zhanjiang, China. In Neuropsychiatr Dis Treat, 2014
Sepiapterin reductase participates in the biosynthesis of tetrahydrobiopterin, which plays very important roles in the pathogenesis of schizophrenia via dysregulation of neurotransmitter systems.
Effect of sulfasalazine on human neuroblastoma: analysis of sepiapterin reductase (SPR) as a new therapeutic target.
Bachmann et al., Grand Rapids, United States. In Bmc Cancer, 2014
To find additional compounds interfering with PA biosynthesis, we tested sulfasalazine (SSZ), an FDA-approved salicylate-based anti-inflammatory and immune-modulatory drug, recently identified to inhibit sepiapterin reductase (SPR).
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.
Opladen et al., Heidelberg, Germany. In Jimd Rep, 2014
Sepiapterin reductase (SR) deficiency is a rare autosomal recessively inherited error of tetrahydrobiopterin (BH4) biosynthesis, resulting in disturbed dopaminergic and serotonergic neurotransmission.
Tetrahydrobiopterin biosynthesis as an off-target of sulfa drugs.
Johnsson et al., Lausanne, Switzerland. In Science, 2013
Here, we report that sulfamethoxazole and other sulfa drugs interfere with tetrahydrobiopterin biosynthesis through inhibition of sepiapterin reductase.
Monoamine neurotransmitter deficiencies.
Pearl, Washington, D.C., United States. In Handb Clin Neurol, 2012
These include Segawa dopa-responsive dystonia and enzymatic deficiencies of aromatic amino acid decarboxylase, tyrosine hydroxylase, and sepiapterin reductase.
Dicarbonyl reduction by single enzyme for the preparation of chiral diols.
Wu et al., Nanjing, China. In Chem Soc Rev, 2012
The dicarbonyl reductases include diketoreductase, α-acetoxy ketone reductase and sepiapterin reductase.
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
Tolun et al., İstanbul, Turkey. In Parkinsonism Relat Disord, 2012
SRD can manifest as early-onset parkinsonism, widening the spectrum of the disease phenotype and adding to the genetic heterogeneity of the disease
Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.
Genetic Epidemiology of Parkinson's Disease Consortium et al., Tübingen, Germany. In Neurobiol Aging, 2011
this large association study for the SPR gene revealed no association for Parkinson disease worldwide.
Sleep and rhythm consequences of a genetically induced loss of serotonin.
Roze et al., Paris, France. In Sleep, 2010
We examine the sleep, sleep-wake rhythms, CSF neurotransmitters, and melatonin profile in a patient with sepiapterin reductase deficiency.
Polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder.
Kennedy et al., New Zealand. In Pharmacogenet Genomics, 2009
This reduced transcription rate for SPR promoter haplotypes 2 and 3 may impact on antidepressant response and susceptibility to bipolar disorder.
Two Greek siblings with sepiapterin reductase deficiency.
Zafeiriou et al., Nijmegen, Netherlands. In Mol Genet Metab, 2008
Genomic DNA revealed the same homozygous point mutation introducing a premature stop codon in the SPR gene in 2 siblings.
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