| 1 | ALMS1, 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 | |
| 2 | GATM, 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 | |
| 3 | GATM |
| 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 | |
| 4 | GATM, 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 | |
| 5 | GAMT, 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 | |
| 6 | GATM |
| 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 | |
| 7 | GATM |
| 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 | |
| 8 | GATM |
| 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 | |
| 9 | GATM |
| Creatine deficiency syndromes. | |
| Schulze A. | |
| Mol Cell Biochem 244(1-2):143-50. Review. 2003 | |
| 10 | GATM |
| 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 | |
| 11 | GATM |
| 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 | |
| 12 | GATM |
| 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 | |