1 | SPR
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| Repurposing of Tranilast for Potential Neuropathic Pain Treatment by Inhibition of Sepiapterin Reductase in the BH4 Pathway.
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| Moore BJR, Islam B, Ward S, Jackson O, Armitage R, Blackburn J, Haider S, McHugh PC.
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| ACS Omega 4(7):11960-11972. doi: 10.1021/acsomega.9b01228. eCollection 2019 Jul 31.
2019
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2 | SPR
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| Sepiapterin reductase inhibition selectively reduces inflammatory joint pain and increases urinary sepiapterin.
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| Fujita M, da Luz Scheffer D, Lenfers Turnes B, Cronin SJF, Latrémolière A, Costigan M, Woolf CJ, Latini A, Andrews NA.
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| Arthritis Rheumatol rthritis Rheumatol. 2019 Jul 27. doi: 10.1002/art.41060. [Epub ahead of print]
2019
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3 | SPR
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| Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?
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| Nakagama Y, Hamanaka K, Mimaki M, Shintaku H, Miyatake S, Matsumoto N, Hirohata K, Inuzuka R, Oka A.
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| Neurol Genet 5(2):e319. doi: 10.1212/NXG.0000000000000319. eCollection 2019 Apr. No abstract available.
2019
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4 | GCH1, SPR
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| The metabolite BH4 controls T cell proliferation in autoimmunity and cancer.
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| Cronin SJF, Seehus C, Weidinger A, Talbot S, Reissig S, Seifert M, Pierson Y, McNeill E, Longhi MS, Turnes BL, Kreslavsky T, Kogler M, Hoffmann D, Ticevic M, da Luz Scheffer D, Tortola L, Cikes D, Jais A, Rangachari M, Rao S, Paolino M, Novatchkova M, Aichinger M, Barrett L, Latremoliere A, Wirnsberger G, Lametschwandtner G, Busslinger M, Zicha S, Latini A, Robson SC, Waisman A, Andrews N, Costigan M, Channon KM, Weiss G, Kozlov AV, Tebbe M, Johnsson K, Woolf CJ, Penninger JM.
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| Nature 563(7732):564-568. doi: 10.1038/s41586-018-0701-2. Epub 2018 Nov 7. Erratum in: Nature. 2019 Aug;572(7769):E18.
2018
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5 | SPR, SPRD
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| Sepiapterin reductase deficiency: Report of 5 new cases.
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| AlSubhi S, AlShahwan S, AlMuhaizae M, AlZaidan H, Tabarki B.
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| Eur J Paediatr Neurol 21(3):583-586. doi: 10.1016/j.ejpn.2017.01.010. Epub 2017 Jan 29.
2017
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6 | SPR, SPRD
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| What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.
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| Friedman JR.
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| Pediatr Neurol 59:76-80. doi: 10.1016/j.pediatrneurol.2015.12.016. Epub 2016 Mar 4.
2016
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7 | SPR
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| Tetrahydrobiopterin Biosynthesis as a Potential Target of the Kynurenine Pathway Metabolite Xanthurenic Acid.
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| Haruki H, Hovius R, Pedersen MG, Johnsson K.
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| J Biol Chem 291(2):652-7. doi: 10.1074/jbc.C115.680488. Epub 2015 Nov 12.
2016
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8 | SPR, SPRD
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| Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
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| Carducci C, Santagata S, Friedman J, Pasquini E, Carducci C, Tolve M, Angeloni A, Leuzzi V.
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| Mol Genet Metab 115(4):157-60. doi: 10.1016/j.ymgme.2015.06.009. Epub 2015 Jun 25.
2015
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9 | SPR
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| Effect of sulfasalazine on human neuroblastoma: analysis of sepiapterin reductase (SPR) as a new therapeutic target.
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| Yco LP, Geerts D, Mocz G, Koster J, Bachmann AS.
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| BMC Cancer 15:477. doi: 10.1186/s12885-015-1447-y.
2015
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10 | SPR, SPRD
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| Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.
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| Zielonka M, Makhseed N, Blau N, Bettendorf M, Hoffmann GF, Opladen T.
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| JIMD Rep 24:109-13. doi: 10.1007/8904_2015_450. Epub 2015 May 26.
2015
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11 | SPR
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| Sulfa drugs inhibit sepiapterin reduction and chemical redox cycling by sepiapterin reductase.
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| Yang S, Jan YH, Mishin V, Richardson JR, Hossain MM, Heindel ND, Heck DE, Laskin DL, Laskin JD.
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| J Pharmacol Exp Ther 352(3):529-40. doi: 10.1124/jpet.114.221572. Epub 2014 Dec 30.
2015
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12 | ODC1, SPR
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| Novel interaction of ornithine decarboxylase with sepiapterin reductase regulates neuroblastoma cell proliferation.
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| Lange I, Geerts D, Feith DJ, Mocz G, Koster J, Bachmann AS.
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| J Mol Biol 426(2):332-46. doi: 10.1016/j.jmb.2013.09.037. Epub 2013 Oct 1.
2014
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13 | SPR
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| Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells.
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| Yang S, Jan YH, Gray JP, Mishin V, Heck DE, Laskin DL, Laskin JD.
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| J Biol Chem 288(26):19221-37. doi: 10.1074/jbc.M112.402164. Epub 2013 May 2.
2013
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14 | SPR, SPRD
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| Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
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| Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, Echenne B, Gutierrez-Solana LG, Hoffmann GF, Hyland K, Kusmierska K, Tijssen MA, Lutz T, Mazzuca M, Penzien J, Poll-The BT, Sykut-Cegielska J, Szymanska K, Thöny B, Blau N.
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| Ann Neurol 71(4):520-30. doi: 10.1002/ana.22685.
2012
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15 | SPR, SPRD
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| Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brain.
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| Homma D, Sumi-Ichinose C, Tokuoka H, Ikemoto K, Nomura T, Kondo K, Katoh S, Ichinose H.
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| J Biol Chem 286(2):1445-52. doi: 10.1074/jbc.M110.159426. Epub 2010 Nov 9.
2011
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16 | SPR, SPRD
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| Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
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| 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.
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| Brain 132(Pt 7):1753-63. doi: 10.1093/brain/awp084. Epub 2009 Jun 2.
2009
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17 | SPR
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| Sepiapterin reductase regulation of endothelial tetrahydrobiopterin and nitric oxide bioavailability.
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| Gao L, Pung YF, Zhang J, Chen P, Wang T, Li M, Meza M, Toro L, Cai H.
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| Am J Physiol Heart Circ Physiol 297(1):H331-9. doi: 10.1152/ajpheart.00007.2009. Epub 2009 May 8.
2009
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18 | SPR, SPRD
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| A brain-specific decrease of the tyrosine hydroxylase protein in sepiapterin reductase-null mice--as a mouse model for Parkinson's disease.
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| Takazawa C, Fujimoto K, Homma D, Sumi-Ichinose C, Nomura T, Ichinose H, Katoh S.
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| Biochem Biophys Res Commun 367(4):787-92. doi: 10.1016/j.bbrc.2008.01.028. Epub 2008 Jan 15.
2008
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19 | SPR, SPRD
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| Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.
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| Tobin JE, Cui J, Wilk JB, Latourelle JC, Laramie JM, McKee AC, Guttman M, Karamohamed S, DeStefano AL, Myers RH.
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| Brain Res 1139:42-7. Epub 2007 Jan 8.
2007
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20 | PARK3, SPR
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| The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
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| Sharma M, Mueller JC, Zimprich A, Lichtner P, Hofer A, Leitner P, Maass S, Berg D, Durr 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).
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| J Med Genet 43(7):557-62. Epub 2006 Jan 27. 2006
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21 | SPR
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| Localization of sepiapterin reductase in the human brain.
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| Ikemoto K, Suzuki T, Ichinose H, Ohye T, Nishimura A, Nishi K, Nagatsu I, Nagatsu T.
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| Brain Res 954(2):237-46. 2002
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22 | CCT4, DCTN1, DOK1, DUSP11, EGR4, EXOC6B, PARK3, SEMA4F, SMYD5, SPR, STAMBP, TIA1, ZNF638
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| Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.
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| West AB, Zimprich A, Lockhart PJ, Farrer M, Singleton A, Holtom B, Lincoln S, Hofer A, Hill L, Muller-Myhsok B, Wszolek ZK, Hardy J, Gasser T.
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| Eur J Hum Genet 9(9):659-66. 2001
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23 | SPR, SPRD
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| Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
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| Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N.
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| Am J Hum Genet 69(2):269-77. 2001
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24 | SPR
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| Genomic organization and chromosomal localization of the human sepiapterin reductase gene.
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| Ohye T, Hori TA, Katoh S, Nagatsu T, Ichinose H.
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| Biochem Biophys Res Commun 251 : 597-602. 1998
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25 | GCH1, SPR
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| Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization.
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| Thšny B, et al.
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| Genomics 26 : 168-170. 1995
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