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Select item 107254941.

Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells

Michael B. Tropak, Ilona Tkachyova, Ray Gu, Alex Lee, Andreas Schulze

Sci Rep. 2023; 13: 22392. Published online 2023 Dec 16. doi: 10.1038/s41598-023-49860-1

PMCID:: PMC10725494

Abstract Article PDF–1.7M

Select item 100924992.

A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease

Eleanor G. Seaby, Steven Turner, David J. Bunyan, Fariba Seyed‐Rezai, Jonathan Essex, Rodney D. Gilbert, Sarah Ennis

Clin Genet. 2023 Feb; 103(2): 214–218. Published online 2022 Oct 21. doi: 10.1111/cge.14235

PMCID:: PMC10092499

Abstract Article PDF–1.2M

Select item 78675303.

The association of GATM polymorphism with statin-induced myopathy: a systematic review and meta-analysis

Mengyuan Liu, Fangfang Fan, Yan Zhang, Jianping Li

Eur J Clin Pharmacol. 2021; 77(3): 349–357. Published online 2020 Oct 13. doi: 10.1007/s00228-020-03019-3

PMCID:: PMC7867530

Abstract Article PDF–1.1M

Select item 43941884.

GATM polymorphism associated with the risk for statin-induced myopathy not replicated in case-control analysis of 715 dyslipidemic individuals

Jasmine A. Luzum, Joseph P. Kitzmiller, Paul J. Isackson, Changxing Ma, Marisa W. Medina, Anees M. Dauki, Eduard B. Mikulik, Heather M. Ochs-Balcom, Georgirene D. Vladutiu

Cell Metab. Author manuscript; available in PMC 2016 Apr 7.

Published in final edited form as: Cell Metab. 2015 Apr 7; 21(4): 622–627. doi: 10.1016/j.cmet.2015.03.003

PMCID:: PMC4394188

Abstract Article PDF–372K

Select item 15642025.

Limited evolutionary conservation of imprinting in the human placenta

D. Monk, P. Arnaud, S. Apostolidou, F. A. Hills, G. Kelsey, P. Stanier, R. Feil, G. E. Moore

Proc Natl Acad Sci U S A. 2006 Apr 25; 103(17): 6623–6628. Published online 2006 Apr 13. doi: 10.1073/pnas.0511031103

PMCID:: PMC1564202

Abstract Article PDF–1.9M

Select item 12743566.

Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans

Chike Bellarmine Item, Sylvia Stöckler-Ipsiroglu, Carmen Stromberger, Adolf Mühl, Maria Grazia Alessandrì, Maria Cristina Bianchi, Michela Tosetti, Francesco Fornai, Giovanni Cioni

Am J Hum Genet. 2001 Nov; 69(5): 1127–1133. Published online 2001 Sep 10. doi: 10.1086/323765

PMCID:: PMC1274356

Abstract Article PDF–209K

Select item 12349257.

Genetic and Physical Mapping of the Locus for Autosomal Dominant Renal Fanconi Syndrome, on Chromosome 15q15.3

U. Lichter-Konecki, K. W. Broman, E. B. Blau, D. S. Konecki

Am J Hum Genet. 2001 Jan; 68(1): 264–268. Published online 2000 Nov 22. doi: 10.1086/316923

PMCID:: PMC1234925

Abstract Article PDF–635K

Select item 12182548.

Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue.

A Humm, E Fritsche, K Mann, M Göhl, R Huber

Biochem J. 1997 Mar 15; 322(Pt 3): 771–776. doi: 10.1042/bj3220771

PMCID:: PMC1218254

Summary PDF–579K

Select item 97724079.

Guanidino acid hydrolysis by the human enzyme annotated as agmatinase

Malte Sinn, Marco Stanoppi, Franziskus Hauth, Jennifer R. Fleming, Dietmar Funck, Olga Mayans, Jörg S. Hartig

Sci Rep. 2022; 12: 22088. Published online 2022 Dec 21. doi: 10.1038/s41598-022-26655-4

PMCID:: PMC9772407

Abstract Article PDF–2.9M

Select item 605092710.

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

Markus Reichold, Enriko D. Klootwijk, Joerg Reinders, Edgar A. Otto, Mario Milani, Carsten Broeker, Chris Laing, Julia Wiesner, Sulochana Devi, Weibin Zhou, Roland Schmitt, Ines Tegtmeier, Christina Sterner, Hannes Doellerer, Kathrin Renner, Peter J. Oefner, Katja Dettmer, Johann M. Simbuerger, Ralph Witzgall, Horia C. Stanescu, Simona Dumitriu, Daniela Iancu, Vaksha Patel, Monika Mozere, Mehmet Tekman, Graciana Jaureguiberry, Naomi Issler, Anne Kesselheim, Stephen B. Walsh, Daniel P. Gale, Alexander J. Howie, Joana R. Martins, Andrew M. Hall, Michael Kasgharian, Kevin O’Brien, Carlos R. Ferreira, Paldeep S. Atwal, Mahim Jain, Alexander Hammers, Geoffrey Charles-Edwards, Chi-Un Choe, Dirk Isbrandt, Alberto Cebrian-Serrano, Ben Davies, Richard N. Sandford, Christopher Pugh, David S. Konecki, Sue Povey, Detlef Bockenhauer, Uta Lichter-Konecki, William A. Gahl, Robert J. Unwin, Richard Warth, Robert Kleta

J Am Soc Nephrol. 2018 Jul; 29(7): 1849–1858. Published online 2018 Apr 13. doi: 10.1681/ASN.2017111179

PMCID:: PMC6050927

Abstract Article

Select item 116996311.

Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis.

A Humm, E Fritsche, S Steinbacher, R Huber

EMBO J. 1997 Jun 15; 16(12): 3373–3385. doi: 10.1093/emboj/16.12.3373

PMCID:: PMC1169963

Summary PDF–926K

Select item 822867212.

Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure

Špela Šalamon, Sebastjan Bevc, Robert Ekart, Radovan Hojs, Uroš Potočnik

Genes (Basel) 2021 Jun; 12(6): 834. Published online 2021 May 28. doi: 10.3390/genes12060834

PMCID:: PMC8228672

Abstract Article PDF–271K

Select item 562912013.

Genetic depletion of adipocyte creatine metabolism inhibits diet-induced thermogenesis and drives obesity

Lawrence Kazak, Edward T. Chouchani, Gina Z. Lu, Mark P. Jedrychowski, Curtis J. Bare, Amir Mina, Manju Kumari, Song Zhang, Ivan Vuckovic, Dina Laznik-Bogoslavski, Petras Dzeja, Alexander S. Banks, Evan D. Rosen, Bruce M. Spiegelman

Cell Metab. Author manuscript; available in PMC 2018 Oct 3.

Published in final edited form as: Cell Metab. 2017 Oct 3; 26(4): 660–671.e3. Published online 2017 Aug 24. doi: 10.1016/j.cmet.2017.08.009

Correction in:: Cell Metab. 2017 Oct 3; 26(4): 693.

PMCID:: PMC5629120

Abstract Article PDF–1.0M

Select item 303928014.

Multiple Novel Loci are Associated with Indices of Renal Function and Chronic Kidney Disease

Anna Köttgen, Nicole L Glazer, Abbas Dehghan, Shih-Jen Hwang, Ronit Katz, Man Li, Qiong Yang, Vilmundur Gudnason, Lenore J Launer, Tamara B Harris, Albert V Smith, Dan E Arking, Brad C Astor, Eric Boerwinkle, Georg B Ehret, Ingo Ruczinski, Robert B Scharpf, Yii-Der Ida Chen, Ian H de Boer, Talin Haritunians, Thomas Lumley, Mark Sarnak, David Siscovick, Emelia J Benjamin, Daniel Levy, Ashish Upadhyay, Yurii S Aulchenko, Albert Hofman, Fernando Rivadeneira, André G Uitterlinden, Cornelia M van Duijn, Daniel I Chasman, Guillaume Paré, Paul M Ridker, WH Linda Kao, Jacqueline C Witteman, Josef Coresh, Michael G Shlipak, Caroline S Fox

Nat Genet. Author manuscript; available in PMC 2011 Feb 15.

Published in final edited form as: Nat Genet. 2009 Jun; 41(6): 712–717. Published online 2009 May 10. doi: 10.1038/ng.377

PMCID:: PMC3039280

Abstract Article PDF–563K

Select item 395282615.

Genetic Determinants Influencing Human Serum Metabolome among African Americans

Bing Yu, Yan Zheng, Danny Alexander, Alanna C. Morrison, Josef Coresh, Eric Boerwinkle

PLoS Genet. 2014 Mar; 10(3): e1004212. Published online 2014 Mar 13. doi: 10.1371/journal.pgen.1004212

PMCID:: PMC3952826

Abstract Article PDF–794K

Select item 299767416.

Multiple New Loci Associated with Kidney Function and Chronic Kidney Disease: The CKDGen consortium

Anna Köttgen, Cristian Pattaro, Carsten A. Böger, Christian Fuchsberger, Matthias Olden, Nicole L. Glazer, Afshin Parsa, Xiaoyi Gao, Qiong Yang, Albert V. Smith, Jeffrey R. O’Connell, Man Li, Helena Schmidt, Toshiko Tanaka, Aaron Isaacs, Shamika Ketkar, Shih-Jen Hwang, Andrew D. Johnson, Abbas Dehghan, Alexander Teumer, Guillaume Paré, Elizabeth J. Atkinson, Tanja Zeller, Kurt Lohman, Marilyn C. Cornelis, Nicole M. Probst-Hensch, Florian Kronenberg, Anke Tönjes, Caroline Hayward, Thor Aspelund, Gudny Eiriksdottir, Lenore Launer, Tamara B. Harris, Evadnie Rapmersaud, Braxton D. Mitchell, Eric Boerwinkle, Maksim Struchalin, Margherita Cavalieri, Andrew Singleton, Francesco Giallauria, Jeffery Metter, Ian de Boer, Talin Haritunians, Thomas Lumley, David Siscovick, Bruce M. Psaty, M. Carola Zillikens, Ben A. Oostra, Mary Feitosa, Michael Province, Daniel Levy, Mariza de Andrade, Stephen T. Turner, Arne Schillert, Andreas Ziegler, Philipp S. Wild, Renate B. Schnabel, Sandra Wilde, Thomas F. Muenzel, Tennille S Leak, Thomas Illig, Norman Klopp, Christa Meisinger, H.-Erich Wichmann, Wolfgang Koenig, Lina Zgaga, Tatijana Zemunik, Ivana Kolcic, Cosetta Minelli, Frank B. Hu, Åsa Johansson, Wilmar Igl, Ghazal Zaboli, Sarah H Wild, Alan F Wright, Harry Campbell, David Ellinghaus, Stefan Schreiber, Yurii S Aulchenko, Fernando Rivadeneira, Andre G Uitterlinden, Albert Hofman, Medea Imboden, Dorothea Nitsch, Anita Brandstätter, Barbara Kollerits, Lyudmyla Kedenko, Reedik Mägi, Michael Stumvoll, Peter Kovacs, Mladen Boban, Susan Campbell, Karlhans Endlich, Henry Völzke, Heyo K. Kroemer, Matthias Nauck, Uwe Völker, Ozren Polasek, Veronique Vitart, Sunita Badola, Alexander N. Parker, Paul M. Ridker, Sharon L. R. Kardia, Stefan Blankenberg, Yongmei Liu, Gary C. Curhan, Andre Franke, Thierry Rochat, Bernhard Paulweber, Inga Prokopenko, Wei Wang, Vilmundur Gudnason, Alan R. Shuldiner, Josef Coresh, Reinhold Schmidt, Luigi Ferrucci, Michael G. Shlipak, Cornelia M. van Duijn, Ingrid Borecki, Bernhard K. Krämer, Igor Rudan, Ulf Gyllensten, James F. Wilson, Jacqueline C. Witteman, Peter P. Pramstaller, Rainer Rettig, Nick Hastie, Daniel I. Chasman, W. H. Kao, Iris M. Heid, Caroline S. Fox

Nat Genet. Author manuscript; available in PMC 2010 Dec 6.

Published in final edited form as: Nat Genet. 2010 May; 42(5): 376–384. Published online 2010 Apr 11. doi: 10.1038/ng.568

PMCID:: PMC2997674

Abstract Article PDF–435K

Select item 997863517.

Fibril treatment changes protein interactions of tau and α-synuclein in human neurons

Tagan A. Griffin, Paul D. Schnier, Elisa M. Cleveland, Robert W. Newberry, Julia Becker, George A. Carlson

J Biol Chem. 2023 Mar; 299(3): 102888. Published online 2023 Jan 10. doi: 10.1016/j.jbc.2023.102888

PMCID:: PMC9978635

Abstract Article PDF–10M

Select item 294347618.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862

PMCID:: PMC2943476

Abstract Article PDF–461K

Select item 934857619.

Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease

Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel

Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205

PMCID:: PMC9348576

Abstract Article PDF–3.0M

Select item 298946120.

Systematic Characterization of Human Protein Complexes Identifies Chromosome Segregation Proteins

James R.A. Hutchins, Yusuke Toyoda, Björn Hegemann, Ina Poser, Jean-Karim Hériché, Martina M. Sykora, Martina Augsburg, Otto Hudecz, Bettina A. Buschhorn, Jutta Bulkescher, Christian Conrad, David Comartin, Alexander Schleiffer, Mihail Sarov, Andrei Pozniakovsky, Mikolaj Michal Slabicki, Siegfried Schloissnig, Ines Steinmacher, Marit Leuschner, Andrea Ssykor, Steffen Lawo, Laurence Pelletier, Holger Stark, Kim Nasmyth, Jan Ellenberg, Richard Durbin, Frank Buchholz, Karl Mechtler, Anthony A. Hyman, Jan-Michael Peters

Science. Author manuscript; available in PMC 2010 Nov 22.

Published in final edited form as: Science. 2010 Apr 30; 328(5978): 593–599. Published online 2010 Apr 1. doi: 10.1126/science.1181348

PMCID:: PMC2989461

Abstract Article PDF–2.2M

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