Citations for
1SPR
Repurposing of Tranilast for Potential Neuropathic Pain Treatment by Inhibition of Sepiapterin Reductase in the BH4 Pathway.
Moore BJR, Islam B, Ward S, Jackson O, Armitage R, Blackburn J, Haider S, McHugh PC.
ACS Omega 4(7):11960-11972. doi: 10.1021/acsomega.9b01228. eCollection 2019 Jul 31. 2019
2SPR
Sepiapterin reductase inhibition selectively reduces inflammatory joint pain and increases urinary sepiapterin.
Fujita M, da Luz Scheffer D, Lenfers Turnes B, Cronin SJF, Latrémolière A, Costigan M, Woolf CJ, Latini A, Andrews NA.
Arthritis Rheumatol rthritis Rheumatol. 2019 Jul 27. doi: 10.1002/art.41060. [Epub ahead of print] 2019
3SPR
Leaky splicing variant in sepiapterin reductase deficiency: Are milder cases escaping diagnosis?
Nakagama Y, Hamanaka K, Mimaki M, Shintaku H, Miyatake S, Matsumoto N, Hirohata K, Inuzuka R, Oka A.
Neurol Genet 5(2):e319. doi: 10.1212/NXG.0000000000000319. eCollection 2019 Apr. No abstract available. 2019
4GCH1, SPR
The metabolite BH4 controls T cell proliferation in autoimmunity and cancer.
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.
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
5SPR, SPRD
Sepiapterin reductase deficiency: Report of 5 new cases.
AlSubhi S, AlShahwan S, AlMuhaizae M, AlZaidan H, Tabarki B.
Eur J Paediatr Neurol 21(3):583-586. doi: 10.1016/j.ejpn.2017.01.010. Epub 2017 Jan 29. 2017
6SPR, SPRD
What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.
Friedman JR.
Pediatr Neurol 59:76-80. doi: 10.1016/j.pediatrneurol.2015.12.016. Epub 2016 Mar 4. 2016
7SPR
Tetrahydrobiopterin Biosynthesis as a Potential Target of the Kynurenine Pathway Metabolite Xanthurenic Acid.
Haruki H, Hovius R, Pedersen MG, Johnsson K.
J Biol Chem 291(2):652-7. doi: 10.1074/jbc.C115.680488. Epub 2015 Nov 12. 2016
8SPR, SPRD
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
Carducci C, Santagata S, Friedman J, Pasquini E, Carducci C, Tolve M, Angeloni A, Leuzzi V.
Mol Genet Metab 115(4):157-60. doi: 10.1016/j.ymgme.2015.06.009. Epub 2015 Jun 25. 2015
9SPR
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.
BMC Cancer 15:477. doi: 10.1186/s12885-015-1447-y. 2015
10SPR, SPRD
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.
Zielonka M, Makhseed N, Blau N, Bettendorf M, Hoffmann GF, Opladen T.
JIMD Rep 24:109-13. doi: 10.1007/8904_2015_450. Epub 2015 May 26. 2015
11SPR
Sulfa drugs inhibit sepiapterin reduction and chemical redox cycling by sepiapterin reductase.
Yang S, Jan YH, Mishin V, Richardson JR, Hossain MM, Heindel ND, Heck DE, Laskin DL, Laskin JD.
J Pharmacol Exp Ther 352(3):529-40. doi: 10.1124/jpet.114.221572. Epub 2014 Dec 30. 2015
12ODC1, SPR
Novel interaction of ornithine decarboxylase with sepiapterin reductase regulates neuroblastoma cell proliferation.
Lange I, Geerts D, Feith DJ, Mocz G, Koster J, Bachmann AS.
J Mol Biol 426(2):332-46. doi: 10.1016/j.jmb.2013.09.037. Epub 2013 Oct 1. 2014
13SPR
Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells.
Yang S, Jan YH, Gray JP, Mishin V, Heck DE, Laskin DL, Laskin JD.
J Biol Chem 288(26):19221-37. doi: 10.1074/jbc.M112.402164. Epub 2013 May 2. 2013
14SPR, SPRD
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
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.
Ann Neurol 71(4):520-30. doi: 10.1002/ana.22685. 2012
15SPR, SPRD
Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brain.
Homma D, Sumi-Ichinose C, Tokuoka H, Ikemoto K, Nomura T, Kondo K, Katoh S, Ichinose H.
J Biol Chem 286(2):1445-52. doi: 10.1074/jbc.M110.159426. Epub 2010 Nov 9. 2011
16SPR, SPRD
Exhaustive 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.
Brain 132(Pt 7):1753-63. doi: 10.1093/brain/awp084. Epub 2009 Jun 2. 2009
17SPR
Sepiapterin reductase regulation of endothelial tetrahydrobiopterin and nitric oxide bioavailability.
Gao L, Pung YF, Zhang J, Chen P, Wang T, Li M, Meza M, Toro L, Cai H.
Am J Physiol Heart Circ Physiol 297(1):H331-9. doi: 10.1152/ajpheart.00007.2009. Epub 2009 May 8. 2009
18SPR, SPRD
A brain-specific decrease of the tyrosine hydroxylase protein in sepiapterin reductase-null mice--as a mouse model for Parkinson's disease.
Takazawa C, Fujimoto K, Homma D, Sumi-Ichinose C, Nomura T, Ichinose H, Katoh S.
Biochem Biophys Res Commun 367(4):787-92. doi: 10.1016/j.bbrc.2008.01.028. Epub 2008 Jan 15. 2008
19SPR, SPRD
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.
Brain Res 1139:42-7. Epub 2007 Jan 8. 2007
20PARK3, SPR
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, 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).
J Med Genet 43(7):557-62. Epub 2006 Jan 27. 2006
21SPR
Localization of sepiapterin reductase in the human brain.
Ikemoto K, Suzuki T, Ichinose H, Ohye T, Nishimura A, Nishi K, Nagatsu I, Nagatsu T.
Brain Res 954(2):237-46. 2002
22CCT4, DCTN1, DOK1, DUSP11, EGR4, EXOC6B, PARK3, SEMA4F, SMYD5, SPR, STAMBP, TIA1, ZNF638
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes.
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.
Eur J Hum Genet 9(9):659-66. 2001
23SPR, SPRD
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N.
Am J Hum Genet 69(2):269-77. 2001
24SPR
Genomic organization and chromosomal localization of the human sepiapterin reductase gene.
Ohye T, Hori TA, Katoh S, Nagatsu T, Ichinose H.
Biochem Biophys Res Commun 251 : 597-602. 1998
25GCH1, SPR
Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization.
Thšny B, et al.
Genomics 26 : 168-170. 1995