Results 31 to 40 of about 409 (115)

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia

Journal of Inherited Metabolic Disease, Volume 43, Issue 6, Page 1186-1198, November 2020., 2020
Abstract Glycine abundance is modulated in a tissue‐specific manner by use in biosynthetic reactions, catabolism by the glycine cleavage system (GCS), and excretion via glycine conjugation. Dysregulation of glycine metabolism is associated with multiple disorders including epilepsy, developmental delay, and birth defects.
Kit‐Yi Leung, Sandra C. P. De Castro, Chloe Santos, Dawn Savery, Helen Prunty, Diana Gold‐Diaz, Stuart Bennett, Simon Heales, Andrew J. Copp, Nicholas D. E. Greene   +9 more
wiley   +1 more source

Impaired cardiac contractile function in arginine:glycine amidinotransferase knockout mice devoid of creatine is rescued by homoarginine but not creatine [PDF]

, 2017
Aims: Creatine buffers cellular adenosine triphosphate (ATP) via the creatine kinase reaction. Creatine levels are reduced in heart failure, but their contribution to pathophysiology is unclear.
Debra J McAndrew, Schneider, Jurgen E, Simon, Jillian, Isbrandt, Dirk, Neubauer, Stefan, Isbrandt, D, McAndrew, Debra J, Zervou, Sevasti, Hannah J Whittington, Choe, C-U, Simon, JN, Dunja Aksentijevic, Barbara Casadei, Aksentijevic, Dunja, Hove, MT, McAndrew, Debra, Craig A Lygate, Schneider, Jurgen, Hove, Michiel Ten, Jurgen E Schneider, Faller, KME, Whittington, HJ, Faller, Kiterie M E, ten Hove, Michiel, Schneider, JE, Lygate, Craig, Whittington, Hannah J, Choe, Chi-Un, Dirk Isbrandt, Zervou, S, Lygate, Craig A, Chi-un Choe, Sevasti Zervou, McAndrew, DJ, Lygate, CA, Michiel ten Hove, Aksentijevic, D, Whittington, Hannah, Simon, Jillian N, Casadei, Barbara, Atzler, Dorothee, Kiterie M E Faller, Atzler, D, Neubauer, S, Jillian N Simon, Lygate, Craig A., Dorothee Atzler, Casadei, B, Stefan Neubauer, ten Hove, M   +49 more
core   +1 more source

Creatine synthesis and transport during rat embryogenesis: spatiotemporal expression of AGAT, GAMT and CT1 [PDF]

, 2005
BACKGROUND: Creatine (Cr) is synthesized by a two-step mechanism involving arginine:glycine amidinotransferase (AGAT) and guanidinoacetate methyltransferase (GAMT), and is taken up by cells through a specific Cr transporter, CT1.
Henry, H, Bachmann, Claude, Wallimann, T, Wallimann, Theo, Braissant, O, Wallimann, Theo; id_orcid, Henry, Hugues, Speer, Oliver, Braissant, Olivier, Villard, Anne-Marie, Villard, A M, Speer, O, Bachmann, C   +12 more
core   +1 more source

Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency [PDF]

, 2017
Background: Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language impairment and behavioural ...
Battini, Roberta, Casarano, Manuela, Tosetti, Michela, Manuela Casarano, Cioni, Giovanni, Michela Tosetti, Casalini, Claudia, Roberta Battini, Claudia Casalini, Giovanni Cioni, M. Grazia Alessandrì, Alessandrì, M. Grazia   +11 more
core   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Enzymes

British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Doriano Fabbro, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Stephanie Annett, Detlev Boison, Kathryn Elisa Burns, Carmen Dessauer, Jürg Gertsch, Nuala Ann Helsby, Angelo A. Izzo, Rennolds Ostrom, Ester Pagano, Andreas Papapetropoulos, Nigel J. Pyne, Susan Pyne, Tracy Robson, Roland Seifert, Johannes‐Peter Stasch, Csaba Szabo, Mario van der Stelt, Albert van der Vliet, Val Watts, Szu Shen Wong   +31 more
wiley   +1 more source

Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans

, 2001
Arginine:glycine amidinotransferase (AGAT) catalyzes the first step of creatine synthesis, resulting in the formation of guanidinoacetate, which is a substrate for creatine formation.
Maria Cristina Bianchi, Tosetti, Michela, Michela Tosetti, BIANCHI M. C., Maria Grazia Alessandrì, Giovanni Cioni, Mühl, Adolf, Francesco Fornai, Stöckler-Ipsiroglu, Sylvia, TOSETTI M., Stromberger, Carmen, ALESSANDR M. G., ITEM C. B., MUHL A., Bianchi, Maria Cristina, Carmen Stromberger, CIONI, GIOVANNI, STROMBERGER C., Adolf Mühl, FORNAI, FRANCESCO, Alessandrì, Maria Grazia, Sylvia Stöckler-Ipsiroglu, Item, Chike Bellarmine, STOECKLER IPSIROGLU S., Chike Bellarmine Item   +24 more
core   +1 more source

Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts

Pharmacology Research &Perspectives, Volume 7, Issue 6, December 2019., 2019
Abstract Creatine transporter deficiency (CTD) is a metabolic disorder resulting in cognitive, motor, and behavioral deficits. Cyclocreatine (cCr), a creatine analog, has been explored as a therapeutic strategy for the treatment of CTD. We developed a rapid, selective, and accurate HILIC ultra‐performance liquid chromatography‐tandem mass spectrometry (
Kirill Gorshkov, Amy Q. Wang, Wei Sun, Ethan Fisher, Marta Frigeni, Marc Singleton, Natasha Thorne, Bradley Class, Wenwei Huang, Nicola Longo, Minh‐Ha T. Do, Elizabeth A. Ottinger, Xin Xu, Wei Zheng   +13 more
wiley   +1 more source

Cardiac expression and location of hexokinase changes in a mouse model of pure creatine deficiency

, 2021
Creatine kinase (CK) is considered the main phosphotransfer system in the heart, important for overcoming diffusion restrictions and regulating mitochondrial respiration.
Lygate, Craig A., Vendelin, Marko, Barsunova, Karina, Karro, Niina, Laasmaa, Martin, Birkedal, Rikke, Branovets, Jelena   +6 more
core   +1 more source

Homoarginine, the methylene homologue of arginine, as a substrate of human arginine:glycine amidinotransferase and arginases

, 2018
L-homoarginine (hArg) is a non-coding amino acid, the blood level reduction of which is associated with an increased risk of stroke and heart attack.
E. S. Alekseevskaya, T. F. Subbotina, A. A. Zhloba   +2 more
core   +1 more source

Disorders of creatine metabolism

, 2022
Primary disorders of creatine metabolism are a group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT, encoded by GATM), guanidinoacetate methyltransferase (GAMT, encoded by GAMT) deficiencies), and the X-linked creatine ...
Mercimek-Andrews, Saadet, Salomons, Gajja S., Stöckler-Ipsiroglu, Sylvia   +2 more
core   +1 more source