| 1 | SLC6A8
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| SLC6A8 is involved in the progression of non-small cell lung cancer through the Notch signaling pathway
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| Feng Y, Guo X, Tang H.
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| Ann Transl Med. Feb;9(3):264. doi: 10.21037/atm-20-5984. 2021
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| 2 | CRTRD, SLC6A8
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| Treatment efficacy of high-dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency.
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| Shi K, Zhao H, Xu S, Han H, Li W.
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| Mol Genet Genomic Med Mar 3:e1640. doi: 10.1002/mgg3.1640. Online ahead of print 2021
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| 3 | SLC6A8
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| Deletion of the Creatine Transporter (Slc6a8) in Dopaminergic Neurons Leads to Hyperactivity in Mice
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| Abdulla ZI, Pahlevani B, Lundgren KH, Pennington JL, Udobi KC, Seroogy KB, Skelton MR.
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| J Mol Neurosci. Jan;70(1):102-111. doi: 10.1007/s12031-019-01405-w. Epub 2019 Sep 13. 2020
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| 4 | SLC6A8
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| Slc6a8-Mediated Creatine Uptake and Accumulation Reprogram Macrophage Polarization via Regulating Cytokine Responses
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| Ji L, Zhao X, Zhang B, Kang L, Song W, Zhao B, Xie W, Chen L, Hu X.
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| Immunity Aug 20;51(2):272-284.e7. doi: 10.1016/j.immuni.2019.06.007. Epub 2019 Aug 6 2019
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| 5 | SLC6A8
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| Creatine uptake regulates CD8 T cell antitumor immunity
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| Di Biase S, Ma X, Wang X, Yu J, Wang YC, Smith DJ, Zhou Y, Li Z, Kim YJ, Clarke N, To A, Yang L
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| J Exp Med. Dec 2;216(12):2869-2882. doi: 10.1084/jem.20182044. Epub 2019 Oct 18 2019
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| 6 | CRTRD, SLC6A8
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| Cognitive deficits and increases in creatine precursors in a brain-specific knockout of the creatine transporter gene Slc6a8
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| Udobi KC, Kokenge AN, Hautman ER, Ullio G, Coene J, Williams MT, Vorhees CV, Mabondzo A, Skelton MR.
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| Genes Brain Behav. Jul;17(6):e12461. doi: 10.1111/gbb.12461. Epub 2018 Feb 20 2018
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| 7 | CRTRD, SLC6A8
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| Creatine transporter deficiency: Novel mutations and functional studies.
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| Ardon O, Procter M, Mao R, Longo N, Landau YE, Shilon-Hadass A, Gabis LV, Hoffmann C, Tzadok M, Heimer G, Sada S, Ben-Zeev B, Anikster Y.
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| Mol Genet Metab Rep. Jun 30;8:20-3. doi: 10.1016/j.ymgmr.2016.06.005. eCollection 2016 Sep 2016
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| 8 | SLC6A8
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| Regulation of the Na+,Cl- Coupled Creatine Transporter CreaT (SLC6A8) by the Janus Kinase JAK3
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| Fezai M, Warsi J, Lang F.
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| Neurosignals. 23(1):11-9. doi: 10.1159/000442600. Epub 2015 Dec 14. 2015
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| 9 | SLC6A8
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| Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements
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| Jaggumantri S, Dunbar M, Edgar V, Mignone C, Newlove T, Elango R, Collet JP, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD
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| Pediatr Neurol. Oct;53(4):360-363.e2. doi: 10.1016/j.pediatrneurol.2015.05.006. Epub 2015 May 16 2015
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| 10 | OXSR1, SLC6A8, STK39
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| Negative regulation of the creatine transporter SLC6A8 by SPAK and OSR1.
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| Fezai M, Elvira B, Borras J, Ben-Attia M, Hoseinzadeh Z, Lang F.
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| Kidney Blood Press Res 39(6):546-54. doi: 10.1159/000368465. Epub 2014 Dec 8. 2014
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| 11 | KL, SLC6A8
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| Upregulation of the creatine transporter Slc6A8 by Klotho.
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| Almilaji A, Sopjani M, Elvira B, Borras J, Dërmaku-Sopjani M, Munoz C, Warsi J, Lang UE, Lang F.
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| Kidney Blood Press Res 39(6):516-25. doi: 10.1159/000368462. Epub 2014 Nov 29.
2014
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| 12 | SLC16A12, SLC6A8
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| The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
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| Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SM, Kloeckener-Gruissem B.
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| Hum Mol Genet 22(16):3218-26. doi: 10.1093/hmg/ddt175. Epub 2013 Apr 10.
2013
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| 13 | CRTRD, SLC6A8
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| Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes
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| Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ.
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| Mol Genet Metab. Jul;109(3):260-8. doi: 10.1016/j.ymgme.2013.04.006. Epub 2013 Apr 17 2013
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| 14 | CRTRD, SLC6A8
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| Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. 2013
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| van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS
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| J Med Genet. Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3 2013
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| 15 | BCORL1, CRTRD, DDHD2, IDBDD, MCM3AP, PNRIID, PTPRT, SLC6A8, SPG54, SYNE1, ZNF528
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| Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.
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| Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, Gilissen C, Hehir-Kwa JY, Neveling K, del Rosario M, Hira G, Reitano S, Vitello A, Failla P, Greco D, Fichera M, Galesi O, Kleefstra T, Greally MT, Ockeloen CW, Willemsen MH, Bongers EM, Janssen IM, Pfundt R, Veltman JA, Romano C, Willemsen MA, van Bokhoven H, Brunner HG, de Vries BB, de Brouwer AP.
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| J Med Genet. Dec;50(12):802-11. doi: 10.1136/jmedgenet-2013-101644. Epub 2013 Oct 11. 2013
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| 16 | GATM, SLC6A8
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| Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes.
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| Braissant O, Béard E, Torrent C, Henry H.
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| Neurobiol Dis 37(2):423-33. Epub 2009 Oct 29.
2010
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| 17 | SLC6A8
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| Na(+)/Cl(-)/creatine transporter activity and expression in rat brain synaptosomes.
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| Peral MJ, Vázquez-Carretero MD, Ilundain AA.
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| Neuroscience 165(1):53-60. Epub 2009 Oct 3.
2010
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| 18 | SLC6A8
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| Immunohistochemical localisation of the creatine transporter in the rat brain.
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| Mak CS, Waldvogel HJ, Dodd JR, Gilbert RT, Lowe MT, Birch NP, Faull RL, Christie DL.
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| Neuroscience 163(2):571-85. Epub 2009 Jul 4.
2009
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| 19 | SLC6A8
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| Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene.
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| Martínez-Muñoz C, Rosenberg EH, Jakobs C, Salomons GS.
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| Gene 418(1-2):53-9. Epub 2008 Apr 15.
2008
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| 20 | GATM, SLC6A8
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| AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review.
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| Braissant O, Henry H.
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| J Inherit Metab Dis Inherit Metab Dis. 2008 Apr 4. [Epub ahead of print]
2008
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| 21 | SLC6A8, CRTRD
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| Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.
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| Battini R, Chilosi A, Mei D, Casarano M, Alessandri MG, Leuzzi V, Ferretti G, Tosetti M, Bianchi MC, Cioni G.
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| Am J Med Genet A 143(15):1771-4. 2007
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| 22 | SLC6A8, CRTRD
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| Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
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| Rosenberg EH, Martinez Munoz C, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS.
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| Hum Mutat 28(9):890-6. 2007
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| 23 | GAMT, GATM, SLC6A8
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| Expression and function of AGAT, GAMT and CT1 in the mammalian brain.
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| Braissant O, Bachmann C, Henry H.
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| Subcell Biochem 46:67-81. Review.
2007
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| 24 | CRTRD, SLC6A8
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| Severe epilepsy in X-linked creatine transporter defect (CRTR-D).
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| Mancardi MM, Caruso U, Schiaffino MC, Baglietto MG, Rossi A, Battaglia FM, Salomons GS, Jakobs C, Zara F, Veneselli E, Gaggero R.
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| Epilepsia 48(6):1211-3.
2007
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| 25 | ACSL4, AFF2, AGTR2, ARHGEF6, ARX, ATRX, DLG3, ESMR, FTSJ1, GDI1, IL1RAPL1, KDM5C, MECP2, MRX68, MRX89, MRX90, MRXS31, NLGN3, NLGN4X, OPHN1, PQBP1, RPS6KA3, RTTM, SLC16A2, SLC6A8, SYN1, TSPAN7, ZNF41
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| X linked mental retardation: a clinical guide.
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| Raymond FL.
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| J Med Genet 43(3):193-200. Epub 2005 Aug 23. 2006
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| 26 | SLC6A8, CRTRD
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| X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
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| Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS.
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| Hum Genet 119(6):604-10. Epub 2006 Apr 26. 2006
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| 27 | SLC6A8, CRTRD
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| X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.
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| P—o-ArgŸelles P, Arias A, Vilaseca MA, Ribes A, Artuch R, Sans-Fito A, Moreno A, Jakobs C, Salomons G.
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| J Inherit Metab Dis 29(1):220-3. 2006
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| 28 | SLC6A8, CRTRD
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| Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
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| Kleefstra T, Rosenberg EH, Salomons GS, Stroink H, van Bokhoven H, Hamel BC, de Vries BB.
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| Clin Genet 68(4):379-81. No abstract available. 2005
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| 29 | MTOR, SGK1, SGK3, SLC6A8
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| Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3.
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| Shojaiefard M, Christie DL, Lang F.
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| Biochem Biophys Res Commun 334(3):742-6. 2005
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| 30 | SLC6A8, CRTRD
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| High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation.
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| Rosenberg EH, Almeida LS, Kleefstra T, DeGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, DeGrauw TJ, Jakobs C, Salomons GS.
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| Am J Hum Genet 75(1):97-105. Epub 2004 May 20. 2004
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| 31 | CRTRD, SLC6A8
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| X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
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| Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE.
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| Am J Hum Genet 70(5):1349-56. 2002
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| 32 | SLC6A8, CRTRD
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| X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
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| Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G.
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| Ann Neurol 52(2):227-31. 2002
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| 33 | CRTRD, SLC6A8
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| X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
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| Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C.
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| Am J Hum Genet 68(6):1497-500. 2001
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| 34 | ABCD1, ABCD1P3, BCAP31, SLC6A10P, SLC6A8
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| Duplication of a gene-rich cluster between 16p11.1 and Xq28 : a novel pericentromeric-directed mechanism for paralogous genome evolution.
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| Eichler EE, et al.
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| Hum Mol Genet 5 : 899-912. 1996
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| 35 | SLC6A8, SLC6A10P
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| Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28.
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| Iyer GS, et al.
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| Genomics 34 : 143-146. 1996
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| 36 | SLC6A8, PDZD4
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| The genomic organization of a human creatine transporter (CRTR) gene located in Xq28.
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| Sandoval N, Bauer D, Brenner V, Coy JF, Drescher B, Kioschis P, Korn B,Nyakatura G, Poustka A, Reichwald K, Rosenthal A, Platzer M.
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| Genomics 35(2):383-5. 1996
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| 37 | SLC6A8
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| Assignment of the creatine transporter gene (SLC6A8) to human chromosomeXq28 telomeric to G6PD.
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| Gregor P, et al.
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| Genomics 25 : 332-333. 1995
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| 38 | SLC6A8
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| Cloning, pharmacological characterization, and genomic localization of the human creatine transporter.
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| Nash SR, et al.
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| Receptors Channels 2 : 165-174. 1994
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| 39 | MDRE, ABCB1, ABCB4, SLC5A1, SLC5A2, SLC6A1, SLC6A2, SLC6A4, SLC6A6, SLC6A8, SLC6A9
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| Molecular characterization of neurotransmitter transporters.
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| Shafqat S, et al.
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| Mol Endocrinol 7 : 1517-1529. 1993
|