SPR Antibody

1. 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. PMID: 27613114
2. We earlier presented evidence for a physical interaction between ODC and SPR and we showed that RNAi-mediated knockdown of SPR expression significantly reduced native ODC enzyme activity and impeded Neuroblastoma cell proliferation. PMID: 26093909
3. new homozygous mutation in the SPR gene was found in two sisters with dopa-responsive dystonia PMID: 24588500
4. Authors identified SPR as a novel regulator of ODC enzyme activity and, based on clinical evidence, present a model in which SPR drives ODC-mediated malignant progression in neuroblastoma. PMID: 24096079
5. SPR-mediated reduction of sepiapterin and redox cycling occur by distinct mechanisms PMID: 23640889
6. SRD can manifest as early-onset parkinsonism, widening the spectrum of the disease phenotype and adding to the genetic heterogeneity of the disease PMID: 22018912
7. this large association study for the SPR gene revealed no association for Parkinson disease worldwide. PMID: 21782285
8. We examine the sleep, sleep-wake rhythms, CSF neurotransmitters, and melatonin profile in a patient with sepiapterin reductase deficiency. PMID: 20337188
9. haploinsufficiency of SPR can be a rare cause of dopa-responsive dystonia PMID: 15241655
10. Potentially modulates the onset of or risk for Parkinson's disease. PMID: 16443856
11. 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. PMID: 17270157
12. Genomic DNA revealed the same homozygous point mutation introducing a premature stop codon in the SPR gene in 2 siblings. PMID: 18502672
13. This reduced transcription rate for SPR promoter haplotypes 2 and 3 may impact on antidepressant response and susceptibility to bipolar disorder. PMID: 19415819

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HGNC: 11257

OMIM: 182125

KEGG: hsa:6697

STRING: 9606.ENSP00000234454

UniGene: Hs.301540