메뉴 건너뛰기




Volumn 31, Issue 2, 2008, Pages 230-239

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CREATINE; CREATINE TRANSPORTER; GLYCINE AMIDINOTRANSFERASE; GUANIDINOACETATE METHYLTRANSFERASE;

EID: 43149113670     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0826-9     Document Type: Conference Paper
Times cited : (86)

References (76)
  • 1
    • 25444526661 scopus 로고    scopus 로고
    • Creatine transporter localization in developing and adult retina: importance of creatine to retinal function
    • ML Acosta M Kalloniatis DL Christie 2005 Creatine transporter localization in developing and adult retina: importance of creatine to retinal function Am J Physiol Cell Physiol 289 C1015 C1023 15930147 10.1152/ajpcell.00137.2005 1:CAS:528:DC%2BD2MXhtFens7nK 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 , pp. C1015-C1023
    • Acosta, ML1    Kalloniatis, M2    Christie, DL3
  • 2
    • 3242725272 scopus 로고    scopus 로고
    • Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport
    • LS Almeida NM Verhoeven B Roos 2004 Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport Mol Genet Metab 82 214 219 15234334 10.1016/j.ymgme.2004.05.001 1:CAS:528:DC%2BD2cXlsVSgu7w%3D Almeida LS, Verhoeven NM, Roos B, et al (2004) Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab 82: 214–219.
    • (2004) Mol Genet Metab , vol.82 , pp. 214-219
    • Almeida, LS1    Verhoeven, NM2    Roos, B3
  • 3
    • 33745033499 scopus 로고    scopus 로고
    • Exocytotic release of creatine in rat brain
    • LS Almeida GS Salomons F Hogenboom C Jakobs AN Schoffelmeer 2006 Exocytotic release of creatine in rat brain Synapse 60 118 123 16715490 10.1002/syn.20280 1:CAS:528:DC%2BD28XlvFChu7o%3D Almeida LS, Salomons GS, Hogenboom F, Jakobs C, Schoffelmeer AN (2006) Exocytotic release of creatine in rat brain. Synapse 60: 118–123.
    • (2006) Synapse , vol.60 , pp. 118-123
    • Almeida, LS1    Salomons, GS2    Hogenboom, F3    Jakobs, C4    Schoffelmeer, AN5
  • 4
    • 33645678077 scopus 로고    scopus 로고
    • X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype
    • IM Anselm FS Alkuraya GS Salomons 2006 X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype J Inherit Metab Dis 29 214 219 16601897 10.1007/s10545-006-0123-4 1:STN:280:DC%2BD283nvFSjuw%3D%3D Anselm IM, Alkuraya FS, Salomons GS, et al (2006) X-linked 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, IM1    Alkuraya, FS2    Salomons, GS3
  • 5
    • 12244277899 scopus 로고    scopus 로고
    • Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree
    • R Battini V Leuzzi C Carducci 2002 Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree Mol Genet Metab 77 326 331 12468279 10.1016/S1096-7192(02)00175-0 1:CAS:528:DC%2BD38XpsF2rs7g%3D Battini R, Leuzzi V, Carducci C, et al (2002) Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. Mol Genet Metab 77: 326–331.
    • (2002) Mol Genet Metab , vol.77 , pp. 326-331
    • Battini, R1    Leuzzi, V2    Carducci, C3
  • 6
    • 33745016252 scopus 로고    scopus 로고
    • Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease
    • R Battini MG Alessandri V Leuzzi 2006 Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease J Pediatr 148 828 830 16769397 10.1016/j.jpeds.2006.01.043 1:CAS:528:DC%2BD28XlsFGks74%3D Battini R, Alessandri MG, Leuzzi V, et al (2006) Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. J Pediatr 148: 828–830.
    • (2006) J Pediatr , vol.148 , pp. 828-830
    • Battini, R1    Alessandri, MG2    Leuzzi, V3
  • 7
    • 0036324046 scopus 로고    scopus 로고
    • X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8
    • A Bizzi M Bugiani GS Salomons 2002 X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8 Ann Neurol 52 227 231 12210795 10.1002/ana.10246 1:CAS:528:DC%2BD38XmsVOrurg%3D Bizzi A, Bugiani M, Salomons GS, et al (2002) X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Ann Neurol 52: 227–231.
    • (2002) Ann Neurol , vol.52 , pp. 227-231
    • Bizzi, A1    Bugiani, M2    Salomons, GS3
  • 8
    • 4444250722 scopus 로고    scopus 로고
    • Measurement of nitric oxide-related enzymes in the brain by in situ hybridization
    • O Braissant 2004 Measurement of nitric oxide-related enzymes in the brain by in situ hybridization Methods Mol Biol 279 113 124 15199240 1:CAS:528:DC%2BD2cXmsVOju74%3D Braissant O (2004) Measurement of nitric oxide-related enzymes in the brain by in situ hybridization. Methods Mol Biol 279: 113–124.
    • (2004) Methods Mol Biol , vol.279 , pp. 113-124
    • Braissant, O1
  • 9
    • 0033020697 scopus 로고    scopus 로고
    • L-arginine uptake, the citrulline-NO cycle and arginase II in the rat brain: an in situ hybridization study
    • O Braissant T Gotoh M Loup M Mori C Bachmann 1999 L-arginine uptake, the citrulline-NO cycle and arginase II in the rat brain: an in situ hybridization study Mol Brain Res 70 231 241 10407171 10.1016/S0169-328X(99)00151-5 1:CAS:528:DyaK1MXkt1agur0%3D Braissant O, Gotoh T, Loup M, Mori M, Bachmann C (1999) L-arginine uptake, the citrulline-NO cycle and arginase II in the rat brain: an in situ hybridization study. Mol Brain Res 70: 231–241.
    • (1999) Mol Brain Res , vol.70 , pp. 231-241
    • Braissant, O1    Gotoh, T2    Loup, M3    Mori, M4    Bachmann, C5
  • 10
    • 0035854458 scopus 로고    scopus 로고
    • Differential expression of the cationic amino acid transporter 2(B) in the adult rat brain
    • O Braissant T Gotoh M Loup M Mori C Bachmann 2001a Differential expression of the cationic amino acid transporter 2(B) in the adult rat brain Mol Brain Res 91 189 195 10.1016/S0169-328X(01)00113-9 1:CAS:528:DC%2BD3MXltFyqsLs%3D Braissant O, Gotoh T, Loup M, Mori M, Bachmann C (2001a) Differential expression of the cationic amino acid transporter 2(B) in the adult rat brain. Mol Brain Res 91: 189–195.
    • Mol Brain Res , vol.91 , pp. 189-195
    • Braissant, O1    Gotoh, T2    Loup, M3    Mori, M4    Bachmann, C5
  • 11
    • 0035977693 scopus 로고    scopus 로고
    • Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study
    • O Braissant H Henry M Loup B Eilers C Bachmann 2001b Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study Mol Brain Res 86 193 201 10.1016/S0169-328X(00)00269-2 1:CAS:528:DC%2BD3MXpsFahsg%3D%3D Braissant O, Henry H, Loup M, Eilers B, Bachmann C (2001b) Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study. Mol Brain Res 86: 193–201.
    • Mol Brain Res , vol.86 , pp. 193-201
    • Braissant, O1    Henry, H2    Loup, M3    Eilers, B4    Bachmann, C5
  • 12
    • 0037112067 scopus 로고    scopus 로고
    • Ammonium-induced impairment of axonal growth is prevented through glial creatine
    • O Braissant H Henry AM Villard 2002 Ammonium-induced impairment of axonal growth is prevented through glial creatine J Neurosci 22 9810 9820 12427837 1:CAS:528:DC%2BD38XovF2ks7Y%3D Braissant O, Henry H, Villard AM, et al (2002) Ammonium-induced impairment of axonal growth is prevented through glial creatine. J Neurosci 22: 9810–9820.
    • (2002) J Neurosci , vol.22 , pp. 9810-9820
    • Braissant, O1    Henry, H2    Villard, AM3
  • 13
    • 23044475041 scopus 로고    scopus 로고
    • Creatine synthesis and transport during rat embryogenesis: Spatiotemporal expression of AGAT, GAMT and CT1
    • O Braissant H Henry AM Villard O Speer T Wallimann C Bachmann 2005 Creatine synthesis and transport during rat embryogenesis: Spatiotemporal expression of AGAT, GAMT and CT1 BMC Dev Biol 5 9 15918910 10.1186/1471-213X-5-9 1:CAS:528:DC%2BD2MXltFantbw%3D Braissant O, Henry H, Villard AM, Speer O, Wallimann T, Bachmann C (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, O1    Henry, H2    Villard, AM3    Speer, O4    Wallimann, T5    Bachmann, C6
  • 14
    • 36049036264 scopus 로고    scopus 로고
    • Expression and function of AGAT, GAMT and CT1 in the mammalian brain
    • O Braissant C Bachmann H Henry 2007 Expression and function of AGAT, GAMT and CT1 in the mammalian brain Subcell Biochem 46 67 81 18652072 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, O1    Bachmann, C2    Henry, H3
  • 15
    • 85121069055 scopus 로고    scopus 로고
    • Braissant O, Cagnon L, Monnet-Tschudi F, et al (2008). Ammonium alters creatine transport and synthesis in a 3D-culture of developing brain cells, resulting in secondary cerebral creatine deficiency. Eur J Neurosci doi: 10.1111/j.1460-9568.2008.06126.x.
  • 16
    • 36048953322 scopus 로고    scopus 로고
    • Hyperammonemia-induced toxicity for the developing central nervous system
    • L Cagnon O Braissant 2007 Hyperammonemia-induced toxicity for the developing central nervous system Brain Res Rev 56 183 197 17881060 10.1016/j.brainresrev.2007.06.026 1:CAS:528:DC%2BD2sXhtlalsrvO Cagnon L, Braissant O (2007) Hyperammonemia-induced toxicity for the developing central nervous system. Brain Res Rev 56: 183–197.
    • (2007) Brain Res Rev , vol.56 , pp. 183-197
    • Cagnon, L1    Braissant, O2
  • 17
    • 20044386883 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation
    • H Caldeira Araujo W Smit 2005 Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation Am J Med Genet A 133 122 127 15651030 1:STN:280:DC%2BD2M%2Fptlahuw%3D%3D Caldeira Araujo H, Smit W, et al (2005) Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A 133: 122–127.
    • (2005) Am J Med Genet A , vol.133 , pp. 122-127
    • Caldeira Araujo, H1    Smit, W2
  • 18
    • 0035098030 scopus 로고    scopus 로고
    • Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?
    • KM Cecil GS Salomons WS Ball Jr 2001 Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect? Ann Neurol 49 401 404 11261517 10.1002/ana.79 1:STN:280:DC%2BD3M7mtFSrug%3D%3D Cecil KM, Salomons GS, Ball WS Jr, et al (2001) Irreversible brain creatine deficiency with elevated serum and urine creatine: acreatine transporter defect? Ann Neurol 49: 401–404.
    • (2001) Ann Neurol , vol.49 , pp. 401-404
    • Cecil, KM1    Salomons, GS2    Ball, WS3
  • 19
    • 0037254706 scopus 로고    scopus 로고
    • Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency
    • KM Cecil TJ DeGrauw GS Salomons C Jakobs JC Egelhoff JF Clark 2003 Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency J Comput Assist Tomogr 27 44 47 12544242 10.1097/00004728-200301000-00009 Cecil KM, DeGrauw TJ, Salomons GS, Jakobs C, Egelhoff JC, Clark JF (2003) Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency. J Comput Assist Tomogr 27: 44–47.
    • (2003) J Comput Assist Tomogr , vol.27 , pp. 44-47
    • Cecil, KM1    DeGrauw, TJ2    Salomons, GS3    Jakobs, C4    Egelhoff, JC5    Clark, JF6
  • 20
    • 0021978358 scopus 로고
    • Guanidinoacetate methyltransferase activity in tissues and cultured cells
    • MM Daly 1985 Guanidinoacetate methyltransferase activity in tissues and cultured cells Arch Biochem Biophys 236 576 584 3970526 10.1016/0003-9861(85)90661-7 1:CAS:528:DyaL2MXptlCksw%3D%3D Daly MM (1985) Guanidinoacetate methyltransferase activity in tissues and cultured cells. Arch Biochem Biophys 236: 576–584.
    • (1985) Arch Biochem Biophys , vol.236 , pp. 576-584
    • Daly, MM1
  • 21
    • 0032852064 scopus 로고    scopus 로고
    • Increase of total creatine in human brain after oral supplementation of creatine-monohydrate
    • P Dechent PJ Pouwels B Wilken F Hanefeld J Frahm 1999 Increase of total creatine in human brain after oral supplementation of creatine-monohydrate Am J Physiol 277 R698 R704 10484486 1:CAS:528:DyaK1MXmt1Gju7w%3D Dechent P, Pouwels PJ, Wilken B, Hanefeld F, Frahm J (1999) Increase of total creatine in human brain after oral supplementation of creatine-monohydrate. Am J Physiol 277: R698–R704.
    • (1999) Am J Physiol , vol.277 , pp. R698-R704
    • Dechent, P1    Pouwels, PJ2    Wilken, B3    Hanefeld, F4    Frahm, J5
  • 22
    • 0036823086 scopus 로고    scopus 로고
    • Congenital creatine transporter deficiency
    • TJ DeGrauw GS Salomons KM Cecil 2002 Congenital creatine transporter deficiency Neuropediatrics 33 232 238 12536364 10.1055/s-2002-36743 1:CAS:528:DC%2BD3sXht1eru7w%3D DeGrauw TJ, Salomons GS, Cecil KM, et al (2002) Congenital creatine transporter deficiency. Neuropediatrics 33: 232–238.
    • (2002) Neuropediatrics , vol.33 , pp. 232-238
    • DeGrauw, TJ1    Salomons, GS2    Cecil, KM3
  • 23
    • 0031913691 scopus 로고    scopus 로고
    • Metabolism of glycine in primary astroglial cells: synthesis of creatine, serine, and glutathione
    • R Dringen S Verleysdonk B Hamprecht W Willker D Leibfritz A Brand 1998 Metabolism of glycine in primary astroglial cells: synthesis of creatine, serine, and glutathione J Neurochem 70 835 840 9453580 1:CAS:528:DyaK1cXmtFejsQ%3D%3D 10.1046/j.1471-4159.1998.70020835.x Dringen R, Verleysdonk S, Hamprecht B, Willker W, Leibfritz D, Brand A (1998) Metabolism of glycine in primary astroglial cells: synthesis of creatine, serine, and glutathione. J Neurochem 70: 835–840.
    • (1998) J Neurochem , vol.70 , pp. 835-840
    • Dringen, R1    Verleysdonk, S2    Hamprecht, B3    Willker, W4    Leibfritz, D5    Brand, A6
  • 24
    • 3242700748 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle
    • R Ensenauer T Thiel KO Schwab 2004 Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle Mol Genet Metab 82 208 213 15234333 10.1016/j.ymgme.2004.04.005 1:CAS:528:DC%2BD2cXlsVSgu78%3D Ensenauer R, Thiel T, Schwab KO, et al (2004) Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle. Mol Genet Metab 82: 208–213.
    • (2004) Mol Genet Metab , vol.82 , pp. 208-213
    • Ensenauer, R1    Thiel, T2    Schwab, KO3
  • 25
    • 33745898264 scopus 로고    scopus 로고
    • Possible role of creatine concentrations in the brain in regulating appetite and weight
    • RA Galbraith M Furukawa M Li 2006 Possible role of creatine concentrations in the brain in regulating appetite and weight Brain Res 1101 85 91 16781683 10.1016/j.brainres.2006.05.032 1:CAS:528:DC%2BD28XntVWju78%3D Galbraith RA, Furukawa M, Li M (2006) Possible role of creatine concentrations in the brain in regulating appetite and weight. Brain Res 1101: 85–91.
    • (2006) Brain Res , vol.1101 , pp. 85-91
    • Galbraith, RA1    Furukawa, M2    Li, M3
  • 26
    • 0030722925 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency: new clinical features
    • V Ganesan A Johnson A Connelly S Eckhardt RA Surtees 1997 Guanidinoacetate methyltransferase deficiency: new clinical features Pediatr Neurol 17 155 157 9367297 10.1016/S0887-8994(97)00083-0 1:STN:280:DyaK1c%2FjtlWhsg%3D%3D Ganesan V, Johnson A, Connelly A, Eckhardt S, Surtees RA (1997) Guanidinoacetate methyltransferase deficiency: new clinical features. Pediatr Neurol 17: 155–157.
    • (1997) Pediatr Neurol , vol.17 , pp. 155-157
    • Ganesan, V1    Johnson, A2    Connelly, A3    Eckhardt, S4    Surtees, RA5
  • 27
    • 0027537622 scopus 로고
    • A Na(+)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney. cDNA cloning and functional expression
    • C Guimbal MW Kilimann 1993 A Na (+)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney. cDNA cloning and functional expression J Biol Chem 268 8418 8421 8473283 1:CAS:528:DyaK3sXks1Gqtrg%3D Guimbal C, Kilimann MW (1993) A Na (+)-dependent creatine transporter in rabbit brain, muscle, heart, and kidney. cDNA cloning and functional expression. J Biol Chem 268: 8418–8421.
    • (1993) J Biol Chem , vol.268 , pp. 8418-8421
    • Guimbal, C1    Kilimann, MW2
  • 28
    • 18344367230 scopus 로고    scopus 로고
    • X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28
    • KA Hahn GS Salomons D Tackels-Horne 2002 X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 Am J Hum Genet 70 1349 1356 11898126 10.1086/340092 1:CAS:528:DC%2BD38XjsFGnsLY%3D Hahn KA, Salomons GS, Tackels-Horne D, et al (2002) X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet 70: 1349–1356.
    • (2002) Am J Hum Genet , vol.70 , pp. 1349-1356
    • Hahn, KA1    Salomons, GS2    Tackels-Horne, D3
  • 29
    • 0028813282 scopus 로고
    • In situ hybridization analysis of CHOT1, a creatine transporter, in the rat central nervous system
    • HK Happe LC Murrin 1995 In situ hybridization analysis of CHOT1, a creatine transporter, in the rat central nervous system J Comp Neurol 351 94 103 7896942 10.1002/cne.903510109 1:CAS:528:DyaK2MXjs1yqs7s%3D Happe HK, Murrin LC (1995) In situ hybridization analysis of CHOT1, a creatine transporter, in the rat central nervous system. J Comp Neurol 351: 94–103.
    • (1995) J Comp Neurol , vol.351 , pp. 94-103
    • Happe, HK1    Murrin, LC2
  • 30
    • 0033554177 scopus 로고    scopus 로고
    • Neuron-specific expression of cationic amino acid transporter 3 in the adult rat brain
    • H Hosokawa H Ninomiya T Sawamura 1999 Neuron-specific expression of cationic amino acid transporter 3 in the adult rat brain Brain Res 838 158 165 10446328 10.1016/S0006-8993(99)01686-8 1:CAS:528:DyaK1MXlt1Sht7c%3D Hosokawa H, Ninomiya H, Sawamura T, et al (1999) Neuron-specific expression of cationic amino acid transporter 3 in the adult rat brain. Brain Res 838: 158–165.
    • (1999) Brain Res , vol.838 , pp. 158-165
    • Hosokawa, H1    Ninomiya, H2    Sawamura, T3
  • 31
    • 0034764751 scopus 로고    scopus 로고
    • Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans
    • CB Item S Stöckler-Ipsiroglu C Stromberger 2001 Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans Am J Hum Genet 69 1127 1133 11555793 10.1086/323765 1:CAS:528:DC%2BD3MXotlGitLY%3D Item CB, Stöckler-Ipsiroglu S, Stromberger C, et al (2001) Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am J Hum Genet 69: 1127–1133.
    • (2001) Am J Hum Genet , vol.69 , pp. 1127-1133
    • Item, CB1    Stöckler-Ipsiroglu, S2    Stromberger, C3
  • 32
    • 34447526682 scopus 로고    scopus 로고
    • Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy
    • HE Kan E Meeuwissen JJ Asten van A Veltien D Isbrandt A Heerschap 2007 Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy J Appl Physiol 102 2121 2127 17347380 10.1152/japplphysiol.01327.2006 1:CAS:528:DC%2BD2sXnsVKnur4%3D Kan HE, Meeuwissen E, van Asten JJ, Veltien A, Isbrandt D, Heerschap A (2007) Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy. J Appl Physiol 102: 2121–2127.
    • (2007) J Appl Physiol , vol.102 , pp. 2121-2127
    • Kan, HE1    Meeuwissen, E2    Asten, JJ3    Veltien, A4    Isbrandt, D5    Heerschap, A6
  • 33
    • 0031810763 scopus 로고    scopus 로고
    • Creatine synthesis and transport systems in the male rat reproductive tract
    • H Lee JH Kim YJ Chae H Ogawa MH Lee GL Gerton 1998 Creatine synthesis and transport systems in the male rat reproductive tract Biol Reprod 58 1437 1444 9623603 10.1095/biolreprod58.6.1437 1:CAS:528:DyaK1cXjsFShtLY%3D Lee H, Kim JH, Chae YJ, Ogawa H, Lee MH, Gerton GL (1998) Creatine synthesis and transport systems in the male rat reproductive tract. Biol Reprod 58: 1437–1444.
    • (1998) Biol Reprod , vol.58 , pp. 1437-1444
    • Lee, H1    Kim, JH2    Chae, YJ3    Ogawa, H4    Lee, MH5    Gerton, GL6
  • 34
    • 0034649446 scopus 로고    scopus 로고
    • Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)
    • V Leuzzi MC Bianchi M Tosetti 2000 Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation) Neurology 55 1407 1409 11087795 1:STN:280:DC%2BD3M%2FlvFymtw%3D%3D Leuzzi V, Bianchi MC, Tosetti M, et al (2000) Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation). Neurology 55: 1407–1409.
    • (2000) Neurology , vol.55 , pp. 1407-1409
    • Leuzzi, V1    Bianchi, MC2    Tosetti, M3
  • 35
    • 34249783450 scopus 로고    scopus 로고
    • Severe epilepsy in X-linked creatine transporter defect (CRTR-D)
    • MM Mancardi U Caruso MC Schiaffino 2007 Severe epilepsy in X-linked creatine transporter defect (CRTR-D) Epilepsia 48 1211 1213 17553121 10.1111/j.1528-1167.2007.01148.x 1:CAS:528:DC%2BD2sXotFans7Y%3D Mancardi MM, Caruso U, Schiaffino MC, 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, MM1    Caruso, U2    Schiaffino, MC3
  • 36
    • 19944427684 scopus 로고    scopus 로고
    • Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families
    • GM Mancini CE Catsman-Berrevoets IF Coo de 2005 Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families Am J Med Genet A 132 288 295 15690373 1:STN:280:DC%2BD2M%2FmtVOnsQ%3D%3D Mancini GM, Catsman-Berrevoets CE, de Coo IF, et al (2005) Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families. Am J Med Genet A 132: 288–295.
    • (2005) Am J Med Genet A , vol.132 , pp. 288-295
    • Mancini, GM1    Catsman-Berrevoets, CE2    Coo, IF3
  • 37
    • 33747075772 scopus 로고    scopus 로고
    • GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis
    • S Mercimek-Mahmutoglu S Stoeckler-Ipsiroglu A Adami 2006 GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis Neurology 67 480 484 16855203 10.1212/01.wnl.0000234852.43688.bf 1:CAS:528:DC%2BD28Xntl2msbc%3D Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, et al (2006) GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology 67: 480–484.
    • (2006) Neurology , vol.67 , pp. 480-484
    • Mercimek-Mahmutoglu, S1    Stoeckler-Ipsiroglu, S2    Adami, A3
  • 38
    • 0024579332 scopus 로고
    • Creatine transport in cultured cells of rat and mouse brain
    • A Möller B Hamprecht 1989 Creatine transport in cultured cells of rat and mouse brain J Neurochem 52 544 550 2536076 10.1111/j.1471-4159.1989.tb09154.x Möller A, Hamprecht B (1989) Creatine transport in cultured cells of rat and mouse brain. J Neurochem 52: 544–550.
    • (1989) J Neurochem , vol.52 , pp. 544-550
    • Möller, A1    Hamprecht, B2
  • 39
    • 3042511855 scopus 로고    scopus 로고
    • Blood-to-retina transport of creatine via creatine transporter (CRT) at the rat inner blood-retinal barrier
    • T Nakashima M Tomi K Katayama 2004 Blood-to-retina transport of creatine via creatine transporter (CRT) at the rat inner blood-retinal barrier J Neurochem 89 1454 1461 15189348 10.1111/j.1471-4159.2004.02437.x 1:CAS:528:DC%2BD2cXlsVOhtbc%3D Nakashima T, Tomi M, Katayama K, et al (2004) Blood-to-retina transport of creatine via creatine transporter (CRT) at the rat inner blood-retinal barrier. J Neurochem 89: 1454–1461.
    • (2004) J Neurochem , vol.89 , pp. 1454-1461
    • Nakashima, T1    Tomi, M2    Katayama, K3
  • 40
    • 27444435150 scopus 로고    scopus 로고
    • Evidence for creatine biosynthesis in Müller glia
    • T Nakashima M Tomi M Tachikawa M Watanabe T Terasaki K Hosoya 2005 Evidence for creatine biosynthesis in Müller glia GLIA 52 47 52 15892122 10.1002/glia.20222 Nakashima T, Tomi M, Tachikawa M, Watanabe M, Terasaki T, Hosoya K (2005) Evidence for creatine biosynthesis in Müller glia. GLIA 52: 47–52.
    • (2005) GLIA , vol.52 , pp. 47-52
    • Nakashima, T1    Tomi, M2    Tachikawa, M3    Watanabe, M4    Terasaki, T5    Hosoya, K6
  • 41
    • 0036966277 scopus 로고    scopus 로고
    • Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanism
    • A Neu H Neuhoff G Trube 2002 Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanism Neurobiol Dis 11 298 307 12505422 10.1006/nbdi.2002.0547 1:CAS:528:DC%2BD38Xps12rtLs%3D Neu A, Neuhoff H, Trube G, et al (2002) Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanism. Neurobiol Dis 11: 298–307.
    • (2002) Neurobiol Dis , vol.11 , pp. 298-307
    • Neu, A1    Neuhoff, H2    Trube, G3
  • 42
    • 21244497743 scopus 로고    scopus 로고
    • New aspects of the blood–brain barrier transporters; its physiological roles in the central nervous system
    • S Ohtsuki 2004 New aspects of the blood–brain barrier transporters; its physiological roles in the central nervous system Biol Pharm Bull 27 1489 1496 15467183 10.1248/bpb.27.1489 1:CAS:528:DC%2BD2cXhtFSit7bJ Ohtsuki S (2004) New aspects of the blood–brain barrier transporters; its physiological roles in the central nervous system. Biol Pharm Bull 27: 1489–1496.
    • (2004) Biol Pharm Bull , vol.27 , pp. 1489-1496
    • Ohtsuki, S1
  • 43
    • 0036843535 scopus 로고    scopus 로고
    • The blood-brain barrier creatine transporter is a major pathway for supplying creatine to the brain
    • S Ohtsuki M Tachikawa H Takanaga 2002 The blood-brain barrier creatine transporter is a major pathway for supplying creatine to the brain J Cereb Blood Flow Metab 22 1327 1335 12439290 10.1097/00004647-200211000-00006 1:CAS:528:DC%2BD38Xosl2gtrc%3D Ohtsuki S, Tachikawa M, Takanaga H, et al (2002) The blood-brain barrier creatine transporter is a major pathway for supplying creatine to the brain. J Cereb Blood Flow Metab 22: 1327–1335.
    • (2002) J Cereb Blood Flow Metab , vol.22 , pp. 1327-1335
    • Ohtsuki, S1    Tachikawa, M2    Takanaga, H3
  • 44
    • 0038665436 scopus 로고    scopus 로고
    • Kinetics of creatine in blood and brain after intraperitoneal injection in the rat
    • L Perasso A Cupello GL Lunardi C Principato C Gandolfo M Balestrino 2003 Kinetics of creatine in blood and brain after intraperitoneal injection in the rat Brain Res 974 37 42 12742622 10.1016/S0006-8993(03)02547-2 1:CAS:528:DC%2BD3sXjs1Cktrg%3D Perasso L, Cupello A, Lunardi GL, Principato C, Gandolfo C, Balestrino M (2003) Kinetics of creatine in blood and brain after intraperitoneal injection in the rat. Brain Res 974: 37–42.
    • (2003) Brain Res , vol.974 , pp. 37-42
    • Perasso, L1    Cupello, A2    Lunardi, GL3    Principato, C4    Gandolfo, C5    Balestrino, M6
  • 45
    • 0001510420 scopus 로고
    • Biosynthesis and disposition of γ-guanidinobutyric acid in mammalian tissues
    • JJ Pisano D Abraham S Udenfriend 1963 Biosynthesis and disposition of γ-guanidinobutyric acid in mammalian tissues Arch Biochem Biophys 100 323 329 10.1016/0003-9861(63)90080-8 1:CAS:528:DyaF3sXmtFKjsg%3D%3D Pisano JJ, Abraham D, Udenfriend S (1963) Biosynthesis and disposition of γ-guanidinobutyric acid in mammalian tissues. Arch Biochem Biophys 100: 323–329.
    • (1963) Arch Biochem Biophys , vol.100 , pp. 323-329
    • Pisano, JJ1    Abraham, D2    Udenfriend, S3
  • 46
    • 33645686423 scopus 로고    scopus 로고
    • X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism
    • P Póo-Argüelles A Arias MA Vilaseca 2006 X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism J Inherit Metab Dis 29 220 223 16601898 10.1007/s10545-006-0212-4 Póo-Argüelles P, Arias A, Vilaseca MA, et al (2006) X-Linked 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
    • Póo-Argüelles, P1    Arias, A2    Vilaseca, MA3
  • 47
    • 0242290992 scopus 로고    scopus 로고
    • MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency
    • WK Renema A Schmidt JJ Asten van 2003 MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency Magn Reson Med 50 936 943 14587004 10.1002/mrm.10627 1:CAS:528:DC%2BD3sXps1amt7w%3D Renema WK, Schmidt A, van Asten JJ, et al (2003) MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency. Magn Reson Med 50: 936–943.
    • (2003) Magn Reson Med , vol.50 , pp. 936-943
    • Renema, WK1    Schmidt, A2    Asten, JJ3
  • 48
    • 0034987448 scopus 로고    scopus 로고
    • X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome
    • GS Salomons SJ Dooren van NM Verhoeven 2001 X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome Am J Hum Genet 68 1497 1500 11326334 10.1086/320595 1:CAS:528:DC%2BD3MXltFeqsbg%3D Salomons GS, van Dooren SJ, Verhoeven NM, et al (2001) X-linked creatine-transporter gene (SLC6A8) defect: a newcreatine-deficiency syndrome. Am J Hum Genet 68: 1497–1500.
    • (2001) Am J Hum Genet , vol.68 , pp. 1497-1500
    • Salomons, GS1    Dooren, SJ2    Verhoeven, NM3
  • 49
    • 0038042466 scopus 로고    scopus 로고
    • X-linked creatine transporter defect: an overview
    • GS Salomons SJ Dooren van NM Verhoeven 2003 X-linked creatine transporter defect: an overview J Inherit Metab Dis 26 309 318 12889669 10.1023/A:1024405821638 1:CAS:528:DC%2BD3sXkvVCrsrg%3D Salomons GS, van Dooren SJ, Verhoeven NM, 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, GS1    Dooren, SJ2    Verhoeven, NM3
  • 50
    • 0029805748 scopus 로고    scopus 로고
    • Expression of the rat brain creatine transporter in situ and in transfected HeLa cells
    • MD Saltarelli AL Bauman KR Moore CC Bradley RD Blakely 1996 Expression of the rat brain creatine transporter in situ and in transfected HeLa cells Dev Neurosci 18 524 534 8940628 10.1159/000111450 1:CAS:528:DyaK28Xntl2ntro%3D Saltarelli MD, Bauman AL, Moore KR, Bradley CC, Blakely RD (1996) Expression of the rat brain creatine transporter in situ and in transfected HeLa cells. Dev Neurosci 18: 524–534.
    • (1996) Dev Neurosci , vol.18 , pp. 524-534
    • Saltarelli, MD1    Bauman, AL2    Moore, KR3    Bradley, CC4    Blakely, RD5
  • 51
    • 0028264171 scopus 로고
    • The putative rat choline transporter CHOT1 transports creatine and is highly expressed in neural and muscle-rich tissues
    • P Schloss W Mayser H Betz 1994 The putative rat choline transporter CHOT1 transports creatine and is highly expressed in neural and muscle-rich tissues Biochem Biophys Res Commun 198 637 645 8297374 10.1006/bbrc.1994.1093 1:CAS:528:DyaK2cXhsF2ltrw%3D Schloss P, Mayser W, Betz H (1994) The putative rat choline transporter CHOT1 transports creatine and is highly expressed in neural and muscle-rich tissues. Biochem Biophys Res Commun 198: 637–645.
    • (1994) Biochem Biophys Res Commun , vol.198 , pp. 637-645
    • Schloss, P1    Mayser, W2    Betz, H3
  • 52
    • 2442475483 scopus 로고    scopus 로고
    • Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency
    • A Schmidt B Marescau EA Boehm 2004 Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency Hum Mol Genet 13 905 921 15028668 10.1093/hmg/ddh112 1:CAS:528:DC%2BD2cXivFyhurg%3D Schmidt A, Marescau B, Boehm EA, et al (2004) Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency. Hum Mol Genet 13: 905–921.
    • (2004) Hum Mol Genet , vol.13 , pp. 905-921
    • Schmidt, A1    Marescau, B2    Boehm, EA3
  • 53
    • 0037306564 scopus 로고    scopus 로고
    • Creatine deficiency syndromes
    • A Schulze 2003 Creatine deficiency syndromes Mol Cell Biochem 244 143 150 12701824 10.1023/A:1022443503883 1:CAS:528:DC%2BD3sXht12jtrk%3D Schulze A (2003) Creatine deficiency syndromes. Mol Cell Biochem 244: 143–150.
    • (2003) Mol Cell Biochem , vol.244 , pp. 143-150
    • Schulze, A1
  • 54
    • 43149090114 scopus 로고    scopus 로고
    • Pre-symptomatic treatment of creatine biosynthesis defects
    • A Schulze R Battini 2007 Pre-symptomatic treatment of creatine biosynthesis defects Subcell Biochem 46 167 181 18652077 Schulze A, Battini R (2007) Pre-symptomatic treatment of creatine biosynthesis defects. Subcell Biochem 46: 167–181.
    • (2007) Subcell Biochem , vol.46 , pp. 167-181
    • Schulze, A1    Battini, R2
  • 55
    • 0031457381 scopus 로고    scopus 로고
    • Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism
    • A Schulze T Hess R Wevers 1997 Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism J Pediatr 131 626 631 9386672 10.1016/S0022-3476(97)70075-1 1:STN:280:DyaK1c%2Fksl2jsQ%3D%3D Schulze A, Hess T, Wevers R, et al (1997) Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr 131: 626–631.
    • (1997) J Pediatr , vol.131 , pp. 626-631
    • Schulze, A1    Hess, T2    Wevers, R3
  • 56
    • 0031808246 scopus 로고    scopus 로고
    • Therapeutic trial of arginine restriction in creatine deficiency syndrome
    • A Schulze E Mayatepek P Bachert B Marescau PP Deyn De D Rating 1998 Therapeutic trial of arginine restriction in creatine deficiency syndrome Eur J Pediatr 157 606 607 9686828 10.1007/s004310050890 1:CAS:528:DyaK1cXkvVSqsLY%3D Schulze A, Mayatepek E, Bachert P, Marescau B, De Deyn PP, Rating D (1998) Therapeutic trial of arginine restriction in creatine deficiency syndrome. Eur J Pediatr 157: 606–607.
    • (1998) Eur J Pediatr , vol.157 , pp. 606-607
    • Schulze, A1    Mayatepek, E2    Bachert, P3    Marescau, B4    Deyn, PP5    Rating, D6
  • 57
    • 0035694594 scopus 로고    scopus 로고
    • Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation
    • A Schulze F Ebinger D Rating E Mayatepek 2001 Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation Mol Genet Metab 74 413 419 11749046 10.1006/mgme.2001.3257 1:CAS:528:DC%2BD3MXptFegurY%3D Schulze A, Ebinger F, Rating D, Mayatepek E (2001) Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol Genet Metab 74: 413–419.
    • (2001) Mol Genet Metab , vol.74 , pp. 413-419
    • Schulze, A1    Ebinger, F2    Rating, D3    Mayatepek, E4
  • 58
    • 0037309446 scopus 로고    scopus 로고
    • Lack of creatine in muscle and brain in an adult with GAMT deficiency
    • A Schulze P Bachert H Schlemmer 2003 Lack of creatine in muscle and brain in an adult with GAMT deficiency Ann Neurol 53 248 251 12557293 10.1002/ana.10455 1:CAS:528:DC%2BD3sXhs1Wlur8%3D Schulze A, Bachert P, Schlemmer H, et al (2003) Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol 53: 248–251.
    • (2003) Ann Neurol , vol.53 , pp. 248-251
    • Schulze, A1    Bachert, P2    Schlemmer, H3
  • 59
    • 33747721275 scopus 로고    scopus 로고
    • AGAT enzyme inhibition by high-dose ornithine: a new approach in treatment of GAMT deficiency
    • A Schulze A Anninos GF Hoffmann 2005 AGAT enzyme inhibition by high-dose ornithine: a new approach in treatment of GAMT deficiency J Inherit Metab Dis 28 Supplement 1 227 Schulze A, Anninos A, Hoffmann GF, et al (2005) AGAT enzyme inhibition by high-dose ornithine: a new approach in treatment of GAMT deficiency. J Inherit Metab Dis 28 (Supplement 1): 227.
    • (2005) J Inherit Metab Dis , vol.28 , Issue.Supplement 1 , pp. 227
    • Schulze, A1    Anninos, A2    Hoffmann, GF3
  • 60
    • 33747680298 scopus 로고    scopus 로고
    • Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency
    • A Schulze GF Hoffmann P Bachert 2006 Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency Neurology 67 719 721 16924036 10.1212/01.wnl.0000230152.25203.01 1:CAS:528:DC%2BD28XnvVynsbY%3D Schulze A, Hoffmann GF, Bachert P, et al (2006) Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. Neurology 67: 719–721.
    • (2006) Neurology , vol.67 , pp. 719-721
    • Schulze, A1    Hoffmann, GF2    Bachert, P3
  • 61
    • 27644583776 scopus 로고    scopus 로고
    • 1H MR spectroscopy of the brain in Cr transporter defect
    • PE Sijens KT Verbruggen M Oudkerk FJ Spronsen van RJ Soorani-Lunsing 2005 1 H MR spectroscopy of the brain in Cr transporter defect Mol Genet Metab 86 421 422 16169765 10.1016/j.ymgme.2005.08.004 1:CAS:528:DC%2BD2MXhtFOmtL7P Sijens PE, Verbruggen KT, Oudkerk M, van Spronsen FJ, Soorani-Lunsing RJ (2005) 1 H MR spectroscopy of the brain in Cr transporter defect. Mol Genet Metab 86: 421–422.
    • (2005) Mol Genet Metab , vol.86 , pp. 421-422
    • Sijens, PE1    Verbruggen, KT2    Oudkerk, M3    Spronsen, FJ4    Soorani-Lunsing, RJ5
  • 62
    • 0027994133 scopus 로고
    • Creatine deficiency in the brain: a new, treatable inborn error of metabolism
    • S Stöckler U Holzbach F Hanefeld 1994 Creatine deficiency in the brain: a new, treatable inborn error of metabolism Pediatr Res 36 409 413 7808840 Stöckler S, Holzbach U, Hanefeld F, et al (1994) Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 36: 409–413.
    • (1994) Pediatr Res , vol.36 , pp. 409-413
    • Stöckler, S1    Holzbach, U2    Hanefeld, F3
  • 63
    • 0030596907 scopus 로고    scopus 로고
    • Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism
    • S Stöckler F Hanefeld J Frahm 1996 Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism Lancet 348 789 790 8813986 10.1016/S0140-6736(96)04116-5 Stöckler S, Hanefeld F, Frahm J (1996a) Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 348: 789–790.
    • (1996) Lancet , vol.348 , pp. 789-790
    • Stöckler, S1    Hanefeld, F2    Frahm, J3
  • 64
    • 0029959969 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man
    • S Stöckler D Isbrandt F Hanefeld B Schmidt K Figura Von 1996 Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man Am J Hum Genet 58 914 922 8651275 Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, Von Figura K (1996b) Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet 58: 914–922.
    • (1996) Am J Hum Genet , vol.58 , pp. 914-922
    • Stöckler, S1    Isbrandt, D2    Hanefeld, F3    Schmidt, B4    Figura, K5
  • 65
    • 43849095420 scopus 로고    scopus 로고
    • Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology
    • S Stöckler PW Schutz GS Salomons 2007 Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology Subcell Biochem 46 149 166 10.1007/978-1-4020-6486-9_8 18652076 Stöckler S, Schutz PW, Salomons GS (2007) Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell Biochem 46: 149–166.
    • (2007) Subcell Biochem , vol.46 , pp. 149-166
    • Stöckler, S1    Schutz, PW2    Salomons, GS3
  • 66
    • 0038497516 scopus 로고    scopus 로고
    • Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism
    • C Stromberger OA Bodamer S Stöckler-Ipsiroglu 2003 Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism J Inherit Metab Dis 26 299 308 12889668 10.1023/A:1024453704800 1:CAS:528:DC%2BD3sXkvVCrsrs%3D Stromberger C, Bodamer OA, Stöckler-Ipsiroglu S (2003) Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis 26: 299–308.
    • (2003) J Inherit Metab Dis , vol.26 , pp. 299-308
    • Stromberger, C1    Bodamer, OA2    Stöckler-Ipsiroglu, S3
  • 67
    • 0032446322 scopus 로고    scopus 로고
    • An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency
    • EA Struys EE Jansen HJ Brink Ten NM Verhoeven MS Knaap van der C Jakobs 1998 An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency J Pharm Biomed Anal 18 659 665 9919967 10.1016/S0731-7085(98)00280-5 1:CAS:528:DyaK1MXmtF2quw%3D%3D Struys EA, Jansen EE, Ten Brink HJ, Verhoeven NM, van der Knaap MS, Jakobs C (1998) An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. J Pharm Biomed Anal 18: 659–665.
    • (1998) J Pharm Biomed Anal , vol.18 , pp. 659-665
    • Struys, EA1    Jansen, EE2    Brink, HJ3    Verhoeven, NM4    Knaap, MS5    Jakobs, C6
  • 68
    • 13244259284 scopus 로고    scopus 로고
    • Biochemical and clinical characteristics of creatine deficiencysyndromes
    • J Sykut-Cegielska W Gradowska S Mercimek-Mahmutoglu S Stöckler-Ipsiroglu 2004 Biochemical and clinical characteristics of creatine deficiencysyndromes Acta Biochim Pol 51 875 882 15625559 1:CAS:528:DC%2BD2MXisFSntbc%3D Sykut-Cegielska J, Gradowska W, Mercimek-Mahmutoglu S, Stöckler-Ipsiroglu S (2004) Biochemical and clinical characteristics of creatine deficiencysyndromes. Acta Biochim Pol 51: 875–882.
    • (2004) Acta Biochim Pol , vol.51 , pp. 875-882
    • Sykut-Cegielska, J1    Gradowska, W2    Mercimek-Mahmutoglu, S3    Stöckler-Ipsiroglu, S4
  • 69
    • 3142683647 scopus 로고    scopus 로고
    • Distinct cellular expressions of creatine synthetic enzyme GAMT and creatine kinases uCK-Mi and CK-B suggest a novel neuron-glial relationship for brain energy homeostasis
    • M Tachikawa M Fukaya T Terasaki S Ohtsuki M Watanabe 2004 Distinct cellular expressions of creatine synthetic enzyme GAMT and creatine kinases uCK-Mi and CK-B suggest a novel neuron-glial relationship for brain energy homeostasis Eur J Neurosci 20 144 160 15245487 10.1111/j.1460-9568.2004.03478.x Tachikawa M, Fukaya M, Terasaki T, Ohtsuki S, Watanabe M (2004) Distinct cellular expressions of creatine synthetic enzyme GAMT and creatine kinases uCK-Mi and CK-B suggest a novel neuron-glial relationship for brain energy homeostasis. Eur J Neurosci 20: 144–160.
    • (2004) Eur J Neurosci , vol.20 , pp. 144-160
    • Tachikawa, M1    Fukaya, M2    Terasaki, T3    Ohtsuki, S4    Watanabe, M5
  • 70
    • 43149115227 scopus 로고    scopus 로고
    • 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
    • M Tachikawa KI Hosoya S Ohtsuki T Terasaki 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 18652073 Tachikawa M, Hosoya KI, 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, M1    Hosoya, KI2    Ohtsuki, S3    Terasaki, T4
  • 71
    • 15944411041 scopus 로고    scopus 로고
    • Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency
    • A Torremans B Marescau I Possemiers 2005 Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency J Neurol Sci 231 49 55 15792821 10.1016/j.jns.2004.12.014 1:CAS:528:DC%2BD2MXisFKisLg%3D Torremans A, Marescau B, Possemiers I, et al (2005) Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency. J Neurol Sci 231: 49–55.
    • (2005) J Neurol Sci , vol.231 , pp. 49-55
    • Torremans, A1    Marescau, B2    Possemiers, I3
  • 72
    • 0015250466 scopus 로고
    • Distribution of creatine, guanidinoacetate and enzymes for their biosynthesis in the animal kingdom
    • JF Pilsum Van GC Stephens D Taylor 1972 Distribution of creatine, guanidinoacetate and enzymes for their biosynthesis in the animal kingdom Implications for phylogeny. Biochem J 126 325 345 Van Pilsum JF, Stephens GC, Taylor D (1972) Distribution of creatine, guanidinoacetate and enzymes for their biosynthesis in the animal kingdom. Implications for phylogeny. Biochem J 126: 325–345.
    • (1972) Implications for phylogeny. Biochem J , vol.126 , pp. 325-345
    • Pilsum, JF1    Stephens, GC2    Taylor, D3
  • 73
    • 0030696102 scopus 로고    scopus 로고
    • An immunohistochemical and morphometric study on astrocytes and microvasculature in the human cerebral cortex
    • D Virgintino P Monaghan D Robertson 1997 An immunohistochemical and morphometric study on astrocytes and microvasculature in the human cerebral cortex Histochem J 29 655 660 9413738 10.1023/A:1026448614647 1:STN:280:DyaK1c%2FnsFKmuw%3D%3D Virgintino D, Monaghan P, Robertson D, et al (1997) An immunohistochemical and morphometric study on astrocytes and microvasculature in the human cerebral cortex. Histochem J 29: 655–660.
    • (1997) Histochem J , vol.29 , pp. 655-660
    • Virgintino, D1    Monaghan, P2    Robertson, D3
  • 74
    • 0026585611 scopus 로고
    • Intracellular compartmentation, structure and function of creatine kinase isoenzymes in tissues with high and fluctuating energy demands: the ‘phosphocreatine circuit’ for cellular energy homeostasis
    • T Wallimann M Wyss D Brdiczka K Nicolay HM Eppenberger 1992 Intracellular compartmentation, structure and function of creatine kinase isoenzymes in tissues with high and fluctuating energy demands: the ‘phosphocreatine circuit’ for cellular energy homeostasis Biochem J 281 21 40 1731757 1:CAS:528:DyaK38XjvVCjsA%3D%3D Wallimann T, Wyss M, Brdiczka D, Nicolay K, Eppenberger HM (1992) Intracellular compartmentation, structure and function of creatine kinase isoenzymes in tissues with high and fluctuating energy demands: the ‘phosphocreatine circuit’ for cellular energy homeostasis. Biochem J 281: 21–40.
    • (1992) Biochem J , vol.281 , pp. 21-40
    • Wallimann, T1    Wyss, M2    Brdiczka, D3    Nicolay, K4    Eppenberger, HM5
  • 75
    • 0033935979 scopus 로고    scopus 로고
    • Creatine and creatinine metabolism
    • M Wyss R Kaddurah-Daouk 2000 Creatine and creatinine metabolism Physiol Rev 80 1107 1213 10893433 1:CAS:528:DC%2BD3cXlsFWjsb8%3D Wyss M, Kaddurah-Daouk R (2000) Creatine and creatinine metabolism. Physiol Rev 80: 1107–1213.
    • (2000) Physiol Rev , vol.80 , pp. 1107-1213
    • Wyss, M1    Kaddurah-Daouk, R2
  • 76
    • 33745102265 scopus 로고    scopus 로고
    • Intrastriatal administration of guanidinoacetate inhibits Na+,K+-ATPase and creatine kinase activities in rat striatum
    • AI Zugno EB Scherer PF Schuck 2006 Intrastriatal administration of guanidinoacetate inhibits Na +,K +-ATPase and creatine kinase activities in rat striatum Metab Brain Dis 21 41 50 16773469 10.1007/s11011-006-9003-8 1:CAS:528:DC%2BD28Xls1egsL4%3D Zugno AI, Scherer EB, Schuck PF, et al (2006) Intrastriatal administration of guanidinoacetate inhibits Na +,K +-ATPase and creatine kinase activities in rat striatum. Metab Brain Dis 21: 41–50.
    • (2006) Metab Brain Dis , vol.21 , pp. 41-50
    • Zugno, AI1    Scherer, EB2    Schuck, PF3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.