|
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
|
0.710 |
Biomarker
|
disease |
BEFREE |
All these conditions can be identified in newborns by an elevated phenylalanine, with the exception of sepiapterin reductase and the dominant form of GTP cyclohydrolase I deficiency that results in biopterin deficiency/insufficiency only in the brain.
|
19234759 |
2009 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The rapid and favourable response on treatment with L-DOPA warrants the classification of SR deficiency as another autosomal recessive type of DOPA-responsive dystonia (DRD).
|
16650784 |
2006 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The search for mutations in genes coding for components of the biopterin pathway other than GTPCH1 revealed a mutation in the gene coding for sepiapterin reductase (SPR) in 1 of 95 patients with GCH1-negative dopa-responsive dystonia (DRD).
|
15241655 |
2004 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
The more recently described and rarer type of BH(4) deficiency due to Sepiapterin Reductase enzyme deficiency (SR; EC 1.1.1.153; OMIM 182125), which presents as an atypical form of Dopa Responsive Dystonia (DRD) [L. Bonafe, B. Thony, J.M.
|
17188538 |
2007 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
While DRD is mostly caused by autosomal dominant mutations in the GTP cyclohydrolase I gene (GCH1), SR deficiency is an autosomal recessive disease.
|
11592814 |
2001 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Autosomal-recessive (AR) forms of DRD are caused by homozygous or compound heterozygous mutations of the tyrosine hydroxylase (TH) or the sepiapterin reductase (SPR) gene.
|
20590807 |
2010 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Previous testing for mutations in the genes known to cause DRD (GCH1, TH, and SPR) had been negative.
|
23946315 |
2013 |
|
Dopa-Responsive Dystonia
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
No exon deletions or duplicate mutations in the two genes were found in patients with DRD.No mutation in SPR was found.
|
27619486 |
2017 |
|
Bipolar Disorder
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
This reduced transcription rate for SPR promoter haplotypes 2 and 3 may impact on BH4-mediated neurotransmitter production, thus suggesting a biological process through which SPR gene variants might influence antidepressant response and susceptibility to bipolar disorder.
|
19415819 |
2009 |
|
Mood Disorders
|
0.310 |
GeneticVariation
|
group |
BEFREE |
We tested for association of SPR promoter polymorphisms with antidepressant response in a well-characterized triad cohort of mood disorders.
|
19415819 |
2009 |
|
Parkinson Disease
|
0.260 |
GeneticVariation
|
disease |
BEFREE |
Variants in the Quinoid Dihydropteridine Reductase NM_000320 (QDPR c.68G > A (p.G23D)), Sepiapterin Reductase NM_003124 (SPR c.596-2A > G) and Methylenetetrahydrofolate Reductase NM_005957 (MTHFR c.677C > T and c.1298A > C) genes are frequent in Malta and potential candidates for PD.
|
27613114 |
2016 |
|
Parkinson Disease
|
0.260 |
Biomarker
|
disease |
BEFREE |
This may suggest a role for the SPR gene in modifying the age at onset of PD.
|
14663042 |
2003 |
|
Parkinson Disease
|
0.260 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the role of SPR gene polymorphisms in diverse populations in PD, we performed collaborative analyses in the Genetic Epidemiology of Parkinson Disease (GEO-PD) Consortium.
|
21782285 |
2011 |
|
Parkinson Disease
|
0.260 |
GeneticVariation
|
disease |
BEFREE |
The human SPR gene has been mapped at the PARK3 locus, which is related to the onset of Parkinson disease.
|
19246455 |
2009 |
|
Parkinson Disease
|
0.260 |
GeneticVariation
|
disease |
BEFREE |
Recently, a haplotype across the sepiapterin reductase (SPR) gene, which is located in the PARK3 linkage region, was shown to modulate age of onset of Parkinson's disease in sibships from North America.
|
16443856 |
2006 |
|
Parkinson Disease
|
0.260 |
AlteredExpression
|
disease |
BEFREE |
Expression of SPR showed a significant 4-fold increase in PD cases relative to controls, while the expression of AKR1B1 and PTS was significantly decreased in PD cases.
|
17270157 |
2007 |
|
Cerebral Palsy
|
0.110 |
Biomarker
|
disease |
BEFREE |
In 23 patients molecular diagnosis was reached and included 5 hereditary spastic paraplegia genes (SPG) in spastic CP mimics; HPRT1, TH, QDPR, DDC in dystonic CP mimics; ADCY5 and NIKX2-1 in choreic CP mimics; CANA1A in ataxic CP mimics; and SPG, PDHA1, NIKX2-1, AT, SLC2A1 and SPR in mixed CP mimics.
|
30799092 |
2019 |
|
Hyperphenylalaninaemia
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
|
11443547 |
2001 |
|
Hyperphenylalaninaemia
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Penzien, B. Czarnecki, N. Blau, Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia, Am.J. Hum.Genet.69 (2001) 269-277; B.R.G.
|
17188538 |
2007 |
|
Hyperphenylalaninaemia
|
0.030 |
Biomarker
|
disease |
BEFREE |
In contrast to classical forms of BH4 deficiency DRD and SR deficiency present without hyperphenylalaninemia and thus cannot be detected by the neonatal screening for phenylketonuria (PKU).
|
11592814 |
2001 |
|
Hyperphenylalaninemia, Non-Phenylketonuric
|
0.030 |
Biomarker
|
disease |
BEFREE |
In contrast to classical forms of BH4 deficiency DRD and SR deficiency present without hyperphenylalaninemia and thus cannot be detected by the neonatal screening for phenylketonuria (PKU).
|
11592814 |
2001 |
|
Hyperphenylalaninemia, Non-Phenylketonuric
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The more recently described and rarer type of BH(4) deficiency due to Sepiapterin Reductase enzyme deficiency (SR; EC 1.1.1.153; OMIM 182125), which presents as an atypical form of Dopa Responsive Dystonia (DRD) [L. Bonafe, B. Thony, J.M.
|
17188538 |
2007 |
|
Hyperphenylalaninemia, Non-Phenylketonuric
|
0.030 |
Biomarker
|
disease |
BEFREE |
We investigated how BH4 regulates cardiovascular metabolism using an unbiased multiple proteomics approach with a sepiapterin reductase knock-out (Spr<sup>-/-</sup>) mouse as a model of BH4 deficiency.
|
31381993 |
2019 |
|
Neoplasms
|
0.020 |
Biomarker
|
group |
BEFREE |
In this study, we show the clinical relevance of SPR in human NB tumors.
|
26093909 |
2015 |
|
Neoplasms
|
0.020 |
AlteredExpression
|
group |
BEFREE |
The role of CD98 was confirmed in liver cancer cells by cell spreading in vitro and tumorigenicity by nude mice xenograft tumor assay in vivo; membrane expression of basigin and CD98 in SMMC-7721 was measured by FCAS; pull down and SPR analysis were uses to reveal the direct association between basigin and CD98; DsRed1 tagged CD98 was blocked in the cytoplasm in K7721 (whose basigin was knockn out) and had a well colocalization with ER and Rab5a positive recycling endosomes under co-focal; finally, by FRET imaging and FCAS we observed the internalization of basigin and CD98 was flotillin-1-regulated, and their recycle at early steps was Arf6-mediated.
|
26437640 |
2015 |