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The allele frequencies for the SPR c.596-2A > G (0.7%) polymorphism is not a major cause of Parkinson's disease in the Maltese.
We earlier presented evidence for a physical interaction between ODC (显示 ODC1 蛋白) and SPR and we showed that RNAi-mediated knockdown of SPR expression significantly reduced native ODC (显示 ODC1 蛋白) enzyme activity and impeded Neuroblastoma (显示 ARHGEF16 蛋白) cell proliferation.
new homozygous mutation in the SPR gene was found in two sisters with dopa-responsive dystonia
Authors identified SPR as a novel regulator of ODC (显示 ODC1 蛋白) enzyme activity and, based on clinical evidence, present a model in which SPR drives ODC (显示 ODC1 蛋白)-mediated malignant progression in neuroblastoma (显示 ARHGEF16 蛋白).
SPR-mediated reduction of sepiapterin and redox cycling occur by distinct mechanisms
this large association study for the SPR gene revealed no association for Parkinson disease worldwide.
We examine the sleep, sleep-wake rhythms, CSF (显示 CSF2 蛋白) neurotransmitters, and melatonin profile in a patient with sepiapterin reductase deficiency.
haploinsufficiency of SPR can be a rare cause of dopa-responsive dystonia
Although association of SPR to Parkinson's disease (PD) is not strong enough to support that this is the PARK3 gene, this study further implicates a role for SPR in idiopathic PD.
Genomic DNA revealed the same homozygous point mutation introducing a premature stop codon in the SPR gene in 2 siblings.
biopterin contents in the brains of these knock-out mice were moderately decreased from postnatal day 0 (P0) and remained constant up to P21
These data suggest an essential role of SPR in the biosynthesis of BH4, and that the SPR gene could be a candidate gene for PARK3.
this study demonstrates an important role of endothelial SPR in modulating tetrahydrobiopterin and nitric oxide bioavailability
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.
, short chain dehydrogenase/reductase family 38C, member 1
, 7,8-dihydrobiopterin:NADP+ oxidoreductase
, Sepiapterin reductase
, sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)