Citations for
1GATM
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.
Choe CU, Nabuurs C, Stockebrand MC, Neu A, Nunes P, Morellini F, Sauter K, Schillemeit S, Hermans-Borgmeyer I, Marescau B, Heerschap A, Isbrandt D.
Hum Mol Genet 22(1):110-23. doi: 10.1093/hmg/dds407. Epub 2012 Oct 1. 2013
2GATM
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.
Ndika JD, Johnston K, Barkovich JA, Wirt MD, O'Neill P, Betsalel OT, Jakobs C, Salomons GS.
Mol Genet Metab 106(1):48-54. doi: 10.1016/j.ymgme.2012.01.017. Epub 2012 Jan 27. 2012
3ALMS1, BCAS3, C17orf82, CEP89, DUSP11, FAAP24, GATM, MYH9, NAT8, SHROOM3, SLC22A2, SLC7A9, TBX2, TPRKB, UMOD
Genetic loci influencing kidney function and chronic kidney disease.
Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi JS, Gale DP, Wass MN, Ahmadi KR, Bakker SJ, Beckmann J, Bilo HJ, Bochud M, Brown MJ, Caulfield MJ, Connell JM, Cook HT, Cotlarciuc I, Davey Smith G, de Silva R, Deng G, Devuyst O, Dikkeschei LD, Dimkovic N, Dockrell M, Dominiczak A, Ebrahim S, Eggermann T, Farrall M, Ferrucci L, Floege J, Forouhi NG, Gansevoort RT, Han X, Hedblad B, Homan van der Heide JJ, Hepkema BG, Hernandez-Fuentes M, Hypponen E, Johnson T, de Jong PE, Kleefstra N, Lagou V, Lapsley M, Li Y, Loos RJ, Luan J, Luttropp K, Maréchal C, Melander O, Munroe PB, Nordfors L, Parsa A, Peltonen L, Penninx BW, Perucha E, Pouta A, Prokopenko I, Roderick PJ, Ruokonen A, Samani NJ, Sanna S, Schalling M, Schlessinger D, Schlieper G, Seelen MA, Shuldiner AR, Sjögren M, Smit JH, Snieder H, Soranzo N, Spector TD, Stenvinkel P, Sternberg MJ, Swaminathan R, Tanaka T, Ubink-Veltmaat LJ, Uda M, Vollenweider P, Wallace C, Waterworth D, Zerres K, Waeber G, Wareham NJ, Maxwell PH, McCarthy MI, Jarvelin MR, Mooser V, Abecasis GR, Lightstone L, Scott J, Navis G, Elliott P, Kooner JS.
Nat Genet 42(5):373-5. Epub 2010 Apr 11. 2010
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
5GATM
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.
Edvardson S, Korman SH, Livne A, Shaag A, Saada A, Nalbandian R, Allouche-Arnon H, Gomori JM, Katz-Brull R.
Mol Genet Metab 101(2-3):228-32. Epub 2010 Jul 7. 2010
6GATM, 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
7GAMT, 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
8GATM
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
Lion-François L, Cheillan D, Pitelet G, Acquaviva-Bourdain C, Bussy G, Cotton F, Guibaud L, Gérard D, Rivier C, Vianey-Saban C, Jakobs C, Salomons GS, des Portes V.
Neurology 67(9):1713-4. No abstract available. 2006
9GATM
Myocardial expression of the arginine:glycine amidinotransferase gene is elevated in heart failure and normalized after recovery: potential implications for local creatine synthesis.
Cullen ME, Yuen AH, Felkin LE, Smolenski RT, Hall JL, Grindle S, Miller LW, Birks EJ, Yacoub MH, Barton PJ.
Circulation 114(1 Suppl):I16-20. 2006
10GATM
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.
Battini R, Alessandrì MG, Leuzzi V, Moro F, Tosetti M, Bianchi MC, Cioni G.
J Pediatr 148(6):828-30. 2006
11GATM
Creatine deficiency syndromes.
Schulze A.
Mol Cell Biochem 244(1-2):143-50. Review. 2003
12GATM
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.
Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G.
Am J Hum Genet 69(5):1127-33. 2001
13GATM
Reversible brain creatine deficiency in two sisters with normal blood creatine level.
Bianchi MC, Tosetti M, Fornai F, Alessandri' MG, Cipriani P, De Vito G, Canapicchi R.
Ann Neurol 47(4):511-3. 2000
14GATM
Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue.
Humm A, Fritsche E, Mann K, Gohl M, Huber R.
Biochem J 322 ( Pt 3):771-6. 1997