Citations for
1OSR1, SLC6A8, STK39
Negative regulation of the creatine transporter SLC6A8 by SPAK and OSR1.
Fezai M, Elvira B, Borras J, Ben-Attia M, Hoseinzadeh Z, Lang F.
Kidney Blood Press Res 39(6):546-54. doi: 10.1159/000368465. Epub 2014 Dec 8. 2014
2KL, SLC6A8
Upregulation of the creatine transporter Slc6A8 by Klotho.
Almilaji A, Sopjani M, Elvira B, Borras J, Dërmaku-Sopjani M, Munoz C, Warsi J, Lang UE, Lang F.
Kidney Blood Press Res 39(6):516-25. doi: 10.1159/000368462. Epub 2014 Nov 29. 2014
3SLC16A12, SLC6A8
The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
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.
Hum Mol Genet 22(16):3218-26. doi: 10.1093/hmg/ddt175. Epub 2013 Apr 10. 2013
4GATM, SLC6A8
Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes.
Braissant O, Béard E, Torrent C, Henry H.
Neurobiol Dis 37(2):423-33. Epub 2009 Oct 29. 2010
5SLC6A8
Na(+)/Cl(-)/creatine transporter activity and expression in rat brain synaptosomes.
Peral MJ, Vázquez-Carretero MD, Ilundain AA.
Neuroscience 165(1):53-60. Epub 2009 Oct 3. 2010
6SLC6A8
Immunohistochemical localisation of the creatine transporter in the rat brain.
Mak CS, Waldvogel HJ, Dodd JR, Gilbert RT, Lowe MT, Birch NP, Faull RL, Christie DL.
Neuroscience 163(2):571-85. Epub 2009 Jul 4. 2009
7SLC6A8
Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene.
Martínez-Muñoz C, Rosenberg EH, Jakobs C, Salomons GS.
Gene 418(1-2):53-9. Epub 2008 Apr 15. 2008
8GATM, SLC6A8
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review.
Braissant O, Henry H.
J Inherit Metab Dis Inherit Metab Dis. 2008 Apr 4. [Epub ahead of print] 2008
9SLC6A8, CRTRD
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.
Battini R, Chilosi A, Mei D, Casarano M, Alessandri MG, Leuzzi V, Ferretti G, Tosetti M, Bianchi MC, Cioni G.
Am J Med Genet A 143(15):1771-4. 2007
10SLC6A8, CRTRD
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Rosenberg EH, Martinez Munoz C, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS.
Hum Mutat 28(9):890-6. 2007
11GAMT, GATM, SLC6A8
Expression and function of AGAT, GAMT and CT1 in the mammalian brain.
Braissant O, Bachmann C, Henry H.
Subcell Biochem 46:67-81. Review. 2007
12CRTRD, SLC6A8
Severe epilepsy in X-linked creatine transporter defect (CRTR-D).
Mancardi MM, Caruso U, Schiaffino MC, Baglietto MG, Rossi A, Battaglia FM, Salomons GS, Jakobs C, Zara F, Veneselli E, Gaggero R.
Epilepsia 48(6):1211-3. 2007
13ACSL4, 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
X linked mental retardation: a clinical guide.
Raymond FL.
J Med Genet 43(3):193-200. Epub 2005 Aug 23. 2006
14SLC6A8, CRTRD
X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.
Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS.
Hum Genet 119(6):604-10. Epub 2006 Apr 26. 2006
15SLC6A8, CRTRD
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.
P—o-ArgŸelles P, Arias A, Vilaseca MA, Ribes A, Artuch R, Sans-Fito A, Moreno A, Jakobs C, Salomons G.
J Inherit Metab Dis 29(1):220-3. 2006
16SLC6A8, CRTRD
Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.
Kleefstra T, Rosenberg EH, Salomons GS, Stroink H, van Bokhoven H, Hamel BC, de Vries BB.
Clin Genet 68(4):379-81. No abstract available. 2005
17MTOR, SGK1, SGK3, SLC6A8
Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3.
Shojaiefard M, Christie DL, Lang F.
Biochem Biophys Res Commun 334(3):742-6. 2005
18SLC6A8, CRTRD
High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation.
Rosenberg EH, Almeida LS, Kleefstra T, DeGrauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, DeGrauw TJ, Jakobs C, Salomons GS.
Am J Hum Genet 75(1):97-105. Epub 2004 May 20. 2004
19CRTRD, SLC6A8
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
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.
Am J Hum Genet 70(5):1349-56. 2002
20SLC6A8, CRTRD
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G.
Ann Neurol 52(2):227-31. 2002
21CRTRD, SLC6A8
X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C.
Am J Hum Genet 68(6):1497-500. 2001
22ABCD1, ABCD1P3, BCAP31, SLC6A10P, SLC6A8
Duplication of a gene-rich cluster between 16p11.1 and Xq28 : a novel pericentromeric-directed mechanism for paralogous genome evolution.
Eichler EE, et al.
Hum Mol Genet 5 : 899-912. 1996
23SLC6A8, SLC6A10P
Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28.
Iyer GS, et al.
Genomics 34 : 143-146. 1996
24SLC6A8, PDZD4
The genomic organization of a human creatine transporter (CRTR) gene located in Xq28.
Sandoval N, Bauer D, Brenner V, Coy JF, Drescher B, Kioschis P, Korn B,Nyakatura G, Poustka A, Reichwald K, Rosenthal A, Platzer M.
Genomics 35(2):383-5. 1996
25SLC6A8
Assignment of the creatine transporter gene (SLC6A8) to human chromosomeXq28 telomeric to G6PD.
Gregor P, et al.
Genomics 25 : 332-333. 1995
26SLC6A8
Cloning, pharmacological characterization, and genomic localization of the human creatine transporter.
Nash SR, et al.
Receptors Channels 2 : 165-174. 1994
27MDRE, ABCB1, ABCB4, SLC5A1, SLC5A2, SLC6A1, SLC6A2, SLC6A4, SLC6A6, SLC6A8, SLC6A9
Molecular characterization of neurotransmitter transporters.
Shafqat S, et al.
Mol Endocrinol 7 : 1517-1529. 1993