| Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies. | Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies.
Himmelreich N, Blau N, Thöny B. | 09/11/2021 |
| 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. | Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.
Zahra C, Tabone C, Camilleri G, Felice AE, Farrugia R, Bezzina Wettinger S., Free PMC Article | 05/20/2017 |
| 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. | Effect of sulfasalazine on human neuroblastoma: analysis of sepiapterin reductase (SPR) as a new therapeutic target.
Yco LP, Geerts D, Mocz G, Koster J, Bachmann AS., Free PMC Article | 02/27/2016 |
| new homozygous mutation in the SPR gene was found in two sisters with dopa-responsive dystonia | Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.
Koht J, Rengmark A, Opladen T, Bjørnarå KA, Selberg T, Tallaksen CM, Blau N, Toft M. | 12/20/2014 |
| 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. | Novel interaction of ornithine decarboxylase with sepiapterin reductase regulates neuroblastoma cell proliferation.
Lange I, Geerts D, Feith DJ, Mocz G, Koster J, Bachmann AS., Free PMC Article | 04/19/2014 |
| SPR-mediated reduction of sepiapterin and redox cycling occur by distinct mechanisms | Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells.
Yang S, Jan YH, Gray JP, Mishin V, Heck DE, Laskin DL, Laskin JD., Free PMC Article | 09/14/2013 |
| SRD can manifest as early-onset parkinsonism, widening the spectrum of the disease phenotype and adding to the genetic heterogeneity of the disease | A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
Lohmann E, Köroğlu Ç, Hanagasi HA, Dursun B, Taşan E, Tolun A. | 11/3/2012 |
| this large association study for the SPR gene revealed no association for Parkinson disease worldwide. | Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.
Sharma M, Maraganore DM, Ioannidis JP, Riess O, Aasly JO, Annesi G, Abahuni N, Bentivoglio AR, Brice A, Van Broeckhoven C, Chartier-Harlin MC, Destée A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Gispert S, Hattori N, Jasinska-Myga B, Klein C, Lesage S, Lynch T, Lichtner P, Lambert JC, Lang AE, Mellick GD, De Nigris F, Opala G, Quattrone A, Riva C, Rogaeva E, Ross OA, Satake W, Silburn PA, Theuns J, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Gasser T, Krüger R, Genetic Epidemiology of Parkinson's Disease Consortium. | 01/21/2012 |
| We examine the sleep, sleep-wake rhythms, CSF neurotransmitters, and melatonin profile in a patient with sepiapterin reductase deficiency. | Sleep and rhythm consequences of a genetically induced loss of serotonin.
Leu-Semenescu S, Arnulf I, Decaix C, Moussa F, Clot F, Boniol C, Touitou Y, Levy R, Vidailhet M, Roze E., Free PMC Article | 04/19/2010 |
| Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) | Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.
Shyn SI, Shi J, Kraft JB, Potash JB, Knowles JA, Weissman MM, Garriock HA, Yokoyama JS, McGrath PJ, Peters EJ, Scheftner WA, Coryell W, Lawson WB, Jancic D, Gejman PV, Sanders AR, Holmans P, Slager SL, Levinson DF, Hamilton SP., Free PMC Article | 01/20/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Examination of tetrahydrobiopterin pathway genes in autism.
Schnetz-Boutaud NC, Anderson BM, Brown KD, Wright HH, Abramson RK, Cuccaro ML, Gilbert JR, Pericak-Vance MA, Haines JL., Free PMC Article | 09/20/2009 |
| This reduced transcription rate for SPR promoter haplotypes 2 and 3 may impact on antidepressant response and susceptibility to bipolar disorder. | Polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder.
McHugh PC, Joyce PR, Kennedy MR, McHugh PC, Joyce PR, Kennedy MR. | 01/21/2010 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | See all PubMed (2) articlesExhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A, French Dystonia Network. Polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder.
McHugh PC, Joyce PR, Kennedy MR, McHugh PC, Joyce PR, Kennedy MR. | 05/17/2009 |
| Genomic DNA revealed the same homozygous point mutation introducing a premature stop codon in the SPR gene in 2 siblings. | Two Greek siblings with sepiapterin reductase deficiency.
Verbeek MM, Willemsen MAAP, Wevers RA, Lagerwerf AJ, Abeling NGGM, Blau N, Thöny B, Vargiami E, Zafeiriou DI. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
Sharma M, Mueller JC, Zimprich A, Lichtner P, Hofer A, Leitner P, Maass S, Berg D, Dürr A, Bonifati V, De Michele G, Oostra B, Brice A, Wood NW, Muller-Myhsok B, Gasser T, European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD), Sharma M, Mueller JC, Zimprich A, Lichtner P, Hofer A, Leitner P, Maass S, Berg D, Dürr A, Bonifati V, De Michele G, Oostra B, Brice A, Wood NW, Muller-Myhsok B, Gasser T, European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). | 03/13/2008 |
| haploinsufficiency of SPR can be a rare cause of dopa-responsive dystonia | Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.
Steinberger D, Blau N, Goriuonov D, Bitsch J, Zuker M, Hummel S, Müller U. | 01/21/2010 |
| Potentially modulates the onset of or risk for Parkinson's disease. | The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
Sharma M, Mueller JC, Zimprich A, Lichtner P, Hofer A, Leitner P, Maass S, Berg D, Dürr A, Bonifati V, De Michele G, Oostra B, Brice A, Wood NW, Muller-Myhsok B, Gasser T, European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD), Sharma M, Mueller JC, Zimprich A, Lichtner P, Hofer A, Leitner P, Maass S, Berg D, Dürr A, Bonifati V, De Michele G, Oostra B, Brice A, Wood NW, Muller-Myhsok B, Gasser T, European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD)., Free PMC Articles: PMC2593029, PMC2593029 | 01/21/2010 |
| 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. | Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.
Tobin JE, Cui J, Wilk JB, Latourelle JC, Laramie JM, McKee AC, Guttman M, Karamohamed S, DeStefano AL, Myers RH., Free PMC Article | 01/21/2010 |