-
1
-
-
0033935979
-
Creatine and creatinine metabolism
-
Wyss M, Kaddurah-Daouk R (2000) Creatine and creatinine metabolism. Physiol Rev 80: 1107-1213.
-
(2000)
Physiol Rev
, vol.80
, pp. 1107-1213
-
-
Wyss, M.1
Kaddurah-Daouk, R.2
-
2
-
-
0028911446
-
Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD
-
Gregor P, Nash SR, Caron MG, Seldin MF, Warren ST (1995) Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. Genomics 25: 332-333.
-
(1995)
Genomics
, vol.25
, pp. 332-333
-
-
Gregor, P.1
Nash, S.R.2
Caron, M.G.3
Seldin, M.F.4
Warren, S.T.5
-
3
-
-
0035098030
-
Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
-
Cecil KM, Salomons GS, Ball WS, Jr., Wong B, Chuck G, et al. (2001) Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 49: 401-404.
-
(2001)
Ann Neurol
, vol.49
, pp. 401-404
-
-
Cecil, K.M.1
Salomons, G.S.2
Ball Jr., W.S.3
Wong, B.4
Chuck, G.5
-
4
-
-
0036823086
-
Congenital creatine transporter deficiency
-
DeGrauw TJ, Salomons GS, Cecil KM, Chuck G, Newmeyer A, et al. (2002) Congenital creatine transporter deficiency. Neuropediatrics 33: 232-238.
-
(2002)
Neuropediatrics
, vol.33
, pp. 232-238
-
-
Degrauw, T.J.1
Salomons, G.S.2
Cecil, K.M.3
Chuck, G.4
Newmeyer, A.5
-
5
-
-
33645678077
-
Xlinked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype
-
Anselm IA, Alkuraya FS, Salomons GS, Jakobs C, Fulton AB, et al. (2006) Xlinked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype. J Inherit Metab Dis 29: 214-219.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 214-219
-
-
Anselm, I.A.1
Alkuraya, F.S.2
Salomons, G.S.3
Jakobs, C.4
Fulton, A.B.5
-
6
-
-
0037306621
-
The clinical syndrome of creatine transporter deficiency
-
DeGrauw TJ, Cecil KM, Byars AW, Salomons GS, Ball WS, et al. (2003) The clinical syndrome of creatine transporter deficiency. Mol Cell Biochem 244: 45-48.
-
(2003)
Mol Cell Biochem
, vol.244
, pp. 45-48
-
-
Degrauw, T.J.1
Cecil, K.M.2
Byars, A.W.3
Salomons, G.S.4
Ball, W.S.5
-
7
-
-
34249783450
-
Severe epilepsy in X-linked creatine transporter defect (CRTR-D)
-
Mancardi MM, Caruso U, Schiaffino MC, Baglietto MG, Rossi A, et al. (2007) Severe epilepsy in X-linked creatine transporter defect (CRTR-D). Epilepsia 48: 1211-1213.
-
(2007)
Epilepsia
, vol.48
, pp. 1211-1213
-
-
Mancardi, M.M.1
Caruso, U.2
Schiaffino, M.C.3
Baglietto, M.G.4
Rossi, A.5
-
8
-
-
33645686423
-
XLinked creatine transporter deficiency in two patients with severe mental retardation and autism
-
Poo-Arguelles P, Arias A, Vilaseca MA, Ribes A, Artuch R, et al. (2006) XLinked creatine transporter deficiency in two patients with severe mental retardation and autism. J Inherit Metab Dis 29: 220-223.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 220-223
-
-
Poo-Arguelles, P.1
Arias, A.2
Vilaseca, M.A.3
Ribes, A.4
Artuch, R.5
-
9
-
-
0034987448
-
X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome
-
Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, et al. (2001) X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet 68: 1497-1500.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1497-1500
-
-
Salomons, G.S.1
van Dooren, S.J.2
Verhoeven, N.M.3
Cecil, K.M.4
Ball, W.S.5
-
10
-
-
0038042466
-
X-linked creatine transporter defect: An overview
-
Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, et al. (2003) X-linked creatine transporter defect: an overview. J Inherit Metab Dis 26: 309-318.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 309-318
-
-
Salomons, G.S.1
van Dooren, S.J.2
Verhoeven, N.M.3
Marsden, D.4
Schwartz, C.5
-
11
-
-
84881010891
-
Creatine transporter deficiency in two adult patients with static encephalopathy
-
Sempere A, Fons C, Arias A, Rodriguez-Pombo P, Colomer R, et al. (2009) Creatine transporter deficiency in two adult patients with static encephalopathy. J Inherit Metab Dis.
-
(2009)
J Inherit Metab Dis
-
-
Sempere, A.1
Fons, C.2
Arias, A.3
Rodriguez-Pombo, P.4
Colomer, R.5
-
12
-
-
33745067832
-
Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts
-
Rosenberg EH, Munoz CM, DeGrauw TJ, Jakobs C, Salomons GS (2006) Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts. J Inherit Metab Dis 29: 345-346.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 345-346
-
-
Rosenberg, E.H.1
Munoz, C.M.2
Degrauw, T.J.3
Jakobs, C.4
Salomons, G.S.5
-
13
-
-
57649159177
-
Arginine supplementation in four patients with X-linked creatine transporter defect
-
Fons C, Sempere A, Arias A, Lopez-Sala A, Poo P, et al. (2008) Arginine supplementation in four patients with X-linked creatine transporter defect. J Inherit Metab Dis 31: 724-728.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 724-728
-
-
Fons, C.1
Sempere, A.2
Arias, A.3
Lopez-Sala, A.4
Poo, P.5
-
14
-
-
33750972301
-
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation
-
Lion-Francois L, Cheillan D, Pitelet G, Acquaviva-Bourdain C, Bussy G, et al. (2006) High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. Neurology 67: 1713-1714.
-
(2006)
Neurology
, vol.67
, pp. 1713-1714
-
-
Lion-Francois, L.1
Cheillan, D.2
Pitelet, G.3
Acquaviva-Bourdain, C.4
Bussy, G.5
-
15
-
-
84899052251
-
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation
-
Puusepp H, Kall K, Salomons GS, Talvik I, Mannamaa M, et al. (2009) The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation. J Inherit Metab Dis.
-
(2009)
J Inherit Metab Dis
-
-
Puusepp, H.1
Kall, K.2
Salomons, G.S.3
Talvik, I.4
Mannamaa, M.5
-
16
-
-
33744473608
-
Xlinked 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, et al. (2006) Xlinked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet 119: 604-610.
-
(2006)
Hum Genet
, vol.119
, pp. 604-610
-
-
Clark, A.J.1
Rosenberg, E.H.2
Almeida, L.S.3
Wood, T.C.4
Jakobs, C.5
-
17
-
-
23044475041
-
Creatine synthesis and transport during rat embryogenesis: Spatiotemporal expression of AGAT, GAMT and CT1
-
Braissant O, Henry H, Villard AM, Speer O, Wallimann T, et al. (2005) Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1. BMC Dev Biol 5: 9.
-
(2005)
BMC Dev Biol
, vol.5
, pp. 9
-
-
Braissant, O.1
Henry, H.2
Villard, A.M.3
Speer, O.4
Wallimann, T.5
-
18
-
-
0035977693
-
Endogenous synthesis and transport of creatine in the rat brain: An in situ hybridization study
-
Braissant O, Henry H, Loup M, Eilers B, Bachmann C (2001) Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study. Brain Res Mol Brain Res 86: 193-201.
-
(2001)
Brain Res Mol Brain Res
, vol.86
, pp. 193-201
-
-
Braissant, O.1
Henry, H.2
Loup, M.3
Eilers, B.4
Bachmann, C.5
-
19
-
-
36049036264
-
Expression and function of AGAT, GAMT and CT1 in the mammalian brain
-
Braissant O, Bachmann C, Henry H (2007) Expression and function of AGAT, GAMT and CT1 in the mammalian brain. Subcell Biochem 46: 67-81.
-
(2007)
Subcell Biochem
, vol.46
, pp. 67-81
-
-
Braissant, O.1
Bachmann, C.2
Henry, H.3
-
20
-
-
43149115227
-
A novel relationship between creatine transport at the blood-brain and blood-retinal barriers, creatine biosynthesis, and its use for brain and retinal energy homeostasis
-
Tachikawa M, Hosoya K, Ohtsuki S, Terasaki T (2007) A novel relationship between creatine transport at the blood-brain and blood-retinal barriers, creatine biosynthesis, and its use for brain and retinal energy homeostasis. Subcell Biochem 46: 83-98.
-
(2007)
Subcell Biochem
, vol.46
, pp. 83-98
-
-
Tachikawa, M.1
Hosoya, K.2
Ohtsuki, S.3
Terasaki, T.4
-
21
-
-
69249216470
-
Immunohistochemical localisation of the creatine transporter in the rat brain
-
Mak CS, Waldvogel HJ, Dodd JR, Gilbert RT, Lowe MT, et al. (2009) Immunohistochemical localisation of the creatine transporter in the rat brain. Neuroscience 163: 571-585.
-
(2009)
Neuroscience
, vol.163
, pp. 571-585
-
-
Mak, C.S.1
Waldvogel, H.J.2
Dodd, J.R.3
Gilbert, R.T.4
Lowe, M.T.5
-
22
-
-
27644545357
-
Applications of gene targeting technology to mental retardation and developmental disability research
-
Pimenta AF, Levitt P (2005) Applications of gene targeting technology to mental retardation and developmental disability research. Ment Retard Dev Disabil Res Rev 11: 295-302.
-
(2005)
Ment Retard Dev Disabil Res Rev
, vol.11
, pp. 295-302
-
-
Pimenta, A.F.1
Levitt, P.2
-
23
-
-
0029566108
-
A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells
-
Schwenk F, Baron U, Rajewsky K (1995) A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells. Nucleic Acids Res 23: 5080-5081.
-
(1995)
Nucleic Acids Res
, vol.23
, pp. 5080-5081
-
-
Schwenk, F.1
Baron, U.2
Rajewsky, K.3
-
24
-
-
67649506191
-
Tests to assess motor phenotype in mice: A user's guide
-
Brooks SP, Dunnett SB (2009) Tests to assess motor phenotype in mice: a user's guide. Nat Rev Neurosci 10: 519-529.
-
(2009)
Nat Rev Neurosci
, vol.10
, pp. 519-529
-
-
Brooks, S.P.1
Dunnett, S.B.2
-
25
-
-
0041655974
-
Protein tyrosine phosphatase alpha (PTP alpha) knockout mice show deficits inMorris water maze learning, decreased locomotor activity, and decreases in anxiety
-
Skelton MR, Ponniah S, Wang DZ, Doetschman T, Vorhees CV, et al. (2003) Protein tyrosine phosphatase alpha (PTP alpha) knockout mice show deficits inMorris water maze learning, decreased locomotor activity, and decreases in anxiety. Brain Res 984: 1-10.
-
(2003)
Brain Res
, vol.984
, pp. 1-10
-
-
Skelton, M.R.1
Ponniah, S.2
Wang, D.Z.3
Doetschman, T.4
Vorhees, C.V.5
-
26
-
-
33748851504
-
Phosphodiesterase 1B differentially modulates the effects of methamphetamine on locomotor activity and spatial learning through DARPP32-dependent pathways: Evidence from PDE1B-DARPP32 double-knockout mice
-
Ehrman LA, Williams MT, Schaefer TL, Gudelsky GA, Reed TM, et al. (2006) Phosphodiesterase 1B differentially modulates the effects of methamphetamine on locomotor activity and spatial learning through DARPP32-dependent pathways: evidence from PDE1B-DARPP32 double-knockout mice. Genes Brain Behav 5: 540-551.
-
(2006)
Genes Brain Behav
, vol.5
, pp. 540-551
-
-
Ehrman, L.A.1
Williams, M.T.2
Schaefer, T.L.3
Gudelsky, G.A.4
Reed, T.M.5
-
27
-
-
70449533864
-
Mouse plasmacytoma-expressed transcript 1 knock out induced 5-HT disruption results in a lack of cognitive deficits and an anxiety phenotype complicated by hypoactivity and defensiveness
-
Schaefer TL, Vorhees CV, Williams MT (2009) Mouse plasmacytoma-expressed transcript 1 knock out induced 5-HT disruption results in a lack of cognitive deficits and an anxiety phenotype complicated by hypoactivity and defensiveness. Neuroscience 164: 1431-1443.
-
(2009)
Neuroscience
, vol.164
, pp. 1431-1443
-
-
Schaefer, T.L.1
Vorhees, C.V.2
Williams, M.T.3
-
28
-
-
33846461062
-
Morris water maze: Procedures for assessing spatial and related forms of learning and memory
-
Vorhees CV, Williams MT (2006) Morris water maze: procedures for assessing spatial and related forms of learning and memory. Nature Protocols 1: 848-858.
-
(2006)
Nature Protocols
, vol.1
, pp. 848-858
-
-
Vorhees, C.V.1
Williams, M.T.2
-
29
-
-
0034554854
-
Impaired recognition memory in rats after damage to the hippocampus
-
Clark RE, Zola SM, Squire LR (2000) Impaired recognition memory in rats after damage to the hippocampus. J Neurosci 20: 8853-8860.
-
(2000)
J Neurosci
, vol.20
, pp. 8853-8860
-
-
Clark, R.E.1
Zola, S.M.2
Squire, L.R.3
-
30
-
-
35148821488
-
Mouse behavioral assays relevant to the symptoms of autism
-
Crawley JN (2007) Mouse behavioral assays relevant to the symptoms of autism. Brain Pathol 17: 448-459.
-
(2007)
Brain Pathol
, vol.17
, pp. 448-459
-
-
Crawley, J.N.1
-
31
-
-
69749125794
-
Top-down modulation of prepulse inhibition of the startle reflex in humans and rats
-
Li L, Du Y, Li N, Wu X, Wu Y (2009) Top-down modulation of prepulse inhibition of the startle reflex in humans and rats. Neurosci Biobehav Rev 33: 1157-1167.
-
(2009)
Neurosci Biobehav Rev
, vol.33
, pp. 1157-1167
-
-
Li, L.1
Du, Y.2
Li, N.3
Wu, X.4
Wu, Y.5
-
32
-
-
77953282058
-
Induction of fear extinction with hippocampal-infralimbic BDNF
-
Peters J, Dieppa-Perea LM, Melendez LM, Quirk GJ (2010) Induction of fear extinction with hippocampal-infralimbic BDNF. Science 328: 1288-1290.
-
(2010)
Science
, vol.328
, pp. 1288-1290
-
-
Peters, J.1
Dieppa-Perea, L.M.2
Melendez, L.M.3
Quirk, G.J.4
-
33
-
-
77951204702
-
Effect of a neurotoxic dose regimen of (+)-methamphetamine on behavior, plasma corticosterone, and brain monoamines in adult C57BL/6 mice
-
Grace CE, Schaefer TL, Herring NR, Graham DL, Skelton MR, et al. (2010) Effect of a neurotoxic dose regimen of (+)-methamphetamine on behavior, plasma corticosterone, and brain monoamines in adult C57BL/6 mice. Neurotoxicol Teratol 32: 346-355.
-
(2010)
Neurotoxicol Teratol
, vol.32
, pp. 346-355
-
-
Grace, C.E.1
Schaefer, T.L.2
Herring, N.R.3
Graham, D.L.4
Skelton, M.R.5
-
34
-
-
43149113670
-
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review
-
Braissant O, Henry H (2008) AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review. J Inherit Metab Dis.
-
(2008)
J Inherit Metab Dis
-
-
Braissant, O.1
Henry, H.2
-
35
-
-
4344603793
-
Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: A case study
-
Pyne-Geithman GJ, DeGrauw TJ, Cecil KM, Chuck G, Lyons MA, et al. (2004) Presence of normal creatine in the muscle of a patient with a mutation in the creatine transporter: a case study. Mol Cell Biochem 262: 35-39.
-
(2004)
Mol Cell Biochem
, vol.262
, pp. 35-39
-
-
Pyne-Geithman, G.J.1
Degrauw, T.J.2
Cecil, K.M.3
Chuck, G.4
Lyons, M.A.5
-
36
-
-
0028980385
-
Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family
-
Barnwell LF, Chaudhuri G, Townsel JG (1995) Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family. Gene 159: 287-288.
-
(1995)
Gene
, vol.159
, pp. 287-288
-
-
Barnwell, L.F.1
Chaudhuri, G.2
Townsel, J.G.3
-
37
-
-
44949202366
-
Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene
-
Martinez-Munoz C, Rosenberg EH, Jakobs C, Salomons GS (2008) Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene. Gene 418: 53-59.
-
(2008)
Gene
, vol.418
, pp. 53-59
-
-
Martinez-Munoz, C.1
Rosenberg, E.H.2
Jakobs, C.3
Salomons, G.S.4
-
38
-
-
70350234664
-
Ontogeny regulates creatine metabolism in rat small and large intestine
-
Garcia-Miranda P, Garcia-Delgado M, Peral MJ, Calonge ML, Ilundain AA (2009) Ontogeny regulates creatine metabolism in rat small and large intestine. J Physiol Pharmacol 60: 127-133.
-
(2009)
J Physiol Pharmacol
, vol.60
, pp. 127-133
-
-
Garcia-Miranda, P.1
Garcia-Delgado, M.2
Peral, M.J.3
Calonge, M.L.4
Ilundain, A.A.5
-
39
-
-
25444526661
-
Creatine transporter localization in developing and adult retina: Importance of creatine to retinal function
-
Acosta ML, Kalloniatis M, Christie DL (2005) Creatine transporter localization in developing and adult retina: importance of creatine to retinal function. Am J Physiol Cell Physiol 289: C1015-C1023.
-
(2005)
Am J Physiol Cell Physiol
, vol.289
-
-
Acosta, M.L.1
Kalloniatis, M.2
Christie, D.L.3
-
40
-
-
70349956475
-
Brain creatine kinase activity is increased by chronic administration of paroxetine
-
Santos PM, Scaini G, Rezin GT, Benedet J, Rochi N, et al. (2009) Brain creatine kinase activity is increased by chronic administration of paroxetine. Brain Res Bull 80: 327-330.
-
(2009)
Brain Res Bull
, vol.80
, pp. 327-330
-
-
Santos, P.M.1
Scaini, G.2
Rezin, G.T.3
Benedet, J.4
Rochi, N.5
-
41
-
-
70349952161
-
Effects of olanzapine, fluoxetine and olanzapine/fluoxetine on creatine kinase activity in rat brain
-
Agostinho FR, Scaini G, Ferreira GK, Jeremias IC, Reus GZ, et al. (2009) Effects of olanzapine, fluoxetine and olanzapine/fluoxetine on creatine kinase activity in rat brain. Brain Res Bull 80: 337-340.
-
(2009)
Brain Res Bull
, vol.80
, pp. 337-340
-
-
Agostinho, F.R.1
Scaini, G.2
Ferreira, G.K.3
Jeremias, I.C.4
Reus, G.Z.5
-
43
-
-
76749130118
-
5-hydroxytryptamine receptor stimulation of mitochondrial biogenesis
-
Rasbach KA, Funk JA, Jayavelu T, Green PT, Schnellmann RG (2010) 5-hydroxytryptamine receptor stimulation of mitochondrial biogenesis. J Pharmacol Exp Ther 332: 632-639.
-
(2010)
J Pharmacol Exp Ther
, vol.332
, pp. 632-639
-
-
Rasbach, K.A.1
Funk, J.A.2
Jayavelu, T.3
Green, P.T.4
Schnellmann, R.G.5
-
44
-
-
0037049248
-
Effects of genetic depletion of monoamines on somatosensory corical development
-
Alvarez C, Vitalis T, Fon EA, Hanoun N, Hamon M, et al. (2002) Effects of genetic depletion of monoamines on somatosensory corical development. Neuroscience 115: 753-764.
-
(2002)
Neuroscience
, vol.115
, pp. 753-764
-
-
Alvarez, C.1
Vitalis, T.2
Fon, E.A.3
Hanoun, N.4
Hamon, M.5
-
45
-
-
42349093469
-
Novel monoamine oxidase A knock out mice with human-like spontaneous mutation
-
Scott AL, Bortolato M, Chen K, Shih JC (2010) Novel monoamine oxidase A knock out mice with human-like spontaneous mutation. Neuroreport 19: 739-743.
-
(2010)
Neuroreport
, vol.19
, pp. 739-743
-
-
Scott, A.L.1
Bortolato, M.2
Chen, K.3
Shih, J.C.4
|