Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells. | Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells. Tropak MB, Tkachyova I, Gu R, Lee A, Schulze A., Free PMC Article | 12/29/2023 |
Association of Familial Fanconi Syndrome with a Novel GATM Variant. | Association of Familial Fanconi Syndrome with a Novel GATM Variant. Kudo H, Suzuki R, Kondo A, Nozu K, Nakamura Y, Mikami H, Soma J, Nakaya I. | 08/28/2023 |
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease. | A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease. Seaby EG, Turner S, Bunyan DJ, Seyed-Rezai F, Essex J, Gilbert RD, Ennis S., Free PMC Article | 01/14/2023 |
Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure. | Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure. Šalamon Š, Bevc S, Ekart R, Hojs R, Potočnik U., Free PMC Article | 12/18/2021 |
Correlation between single-nucleotide polymorphisms and statin-induced myopathy: a mixed-effects model meta-analysis. | Correlation between single-nucleotide polymorphisms and statin-induced myopathy: a mixed-effects model meta-analysis. Xiang Q, Zhang XD, Mu GY, Wang Z, Liu ZY, Xie QF, Hu K, Zhang Z, Ma LY, Jiang J, Cui YM. | 10/23/2021 |
The association of GATM polymorphism with statin-induced myopathy: a systematic review and meta-analysis. | The association of GATM polymorphism with statin-induced myopathy: a systematic review and meta-analysis. Liu M, Fan F, Zhang Y, Li J., Free PMC Article | 10/2/2021 |
Here, we provide genetic, histologic, cell biologic, and structural evidence for the association between monoallelic GATM mutations and a genetic disorder characterized by renal Fanconi syndrome and progressive kidney failure. | Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R., Free PMC Article | 09/7/2019 |
Measurements of creatine and guanidinoacetate in plasma are recommended for the diagnosis of AGAT and GAMT deficiency.Definitive confirmation of the diagnosis requires DNA sequencing of the appropriate gene and (if molecular analysis is ambiguous) measurement of AGAT or GAMT enzyme activity or of CRTR-mediated transport . | Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. Sharer JD, Bodamer O, Longo N, Tortorelli S, Wamelink MM, Young S. | 12/16/2017 |
Results show the functional characterization of rare missense variants in GATM which cause GATM deficiency. Seven of them report 0% of wild-type GATM activity indicating a putative pathogenicity. | Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM. DesRoches CL, Bruun T, Wang P, Marshall CR, Mercimek-Mahmutoglu S. | 12/16/2017 |
Data suggest that creatine is provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvement of arginine glycine amidinotransferase [AGAT] and guanidinoacetate methyl transferase [GAMT]. [REVIEW] | Creatine biosynthesis and transport in health and disease. Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J. | 12/17/2016 |
AGAT deficiency is a treatable intellectual disability. | Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ. | 10/1/2016 |
Meta-analysis yielded a marginal, but null, association of GATM rs9806699 with statin-induced myopathy. | GATM polymorphism associated with the risk for statin-induced myopathy does not replicate in case-control analysis of 715 dyslipidemic individuals. Luzum JA, Kitzmiller JP, Isackson PJ, Ma C, Medina MW, Dauki AM, Mikulik EB, Ochs-Balcom HM, Vladutiu GD., Free PMC Article | 02/6/2016 |
Genome-wide association reveals that plasma homoarginine is strongly associated with single nucleotide polymorphisms in the AGAT gene. | Homoarginine levels are regulated by L-arginine:glycine amidinotransferase and affect stroke outcome: results from human and murine studies. Choe CU, Atzler D, Wild PS, Carter AM, Böger RH, Ojeda F, Simova O, Stockebrand M, Lackner K, Nabuurs C, Marescau B, Streichert T, Müller C, Lüneburg N, De Deyn PP, Benndorf RA, Baldus S, Gerloff C, Blankenberg S, Heerschap A, Grant PJ, Magnus T, Zeller T, Isbrandt D, Schwedhelm E. | 11/30/2013 |
promiscuous activity of AGAT, a key enzyme in creatine synthesis, plays a pivotal role in homoarginine synthesis | Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine. Davids M, Ndika JD, Salomons GS, Blom HJ, Teerlink T. | 12/29/2012 |
GATM sequencing revealed a homozygous single nucleotide insertion 1111_1112insA, producing a frame-shift at Met-371 and premature termination at codon 376. | 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. | 01/29/2011 |
Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) | Multiple loci associated with indices of renal function and chronic kidney disease. Köttgen A, Glazer NL, Dehghan A, Hwang SJ, Katz R, Li M, Yang Q, Gudnason V, Launer LJ, Harris TB, Smith AV, Arking DE, Astor BC, Boerwinkle E, Ehret GB, Ruczinski I, Scharpf RB, Chen YD, de Boer IH, Haritunians T, Lumley T, Sarnak M, Siscovick D, Benjamin EJ, Levy D, Upadhyay A, Aulchenko YS, Hofman A, Rivadeneira F, Uitterlinden AG, van Duijn CM, Chasman DI, Paré G, Ridker PM, Kao WH, Witteman JC, Coresh J, Shlipak MG, Fox CS., Free PMC Article | 05/17/2009 |
AGAT mRNA expression was significantly elevated in all heart failure patients and returned to normal levels after recovery, suggesting a specific response to heart failure involving elevated local creatine synthesis. | 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. | 01/21/2010 |