Results 11 to 20 of about 1,686 (146)

Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency [PDF]

Human Molecular Genetics, 2004
We generated a knockout mouse model for guanidinoacetate N-methyltransferase (GAMT) deficiency (MIM 601240), the first discovered human creatine deficiency syndrome, by gene targeting in embryonic stem cells. Disruption of the open reading frame of the murine GAMT gene in the first exon resulted in the elimination of 210 of the 237 amino acids present ...
Schmidt, Andreas, Marescau, Bart, Boehm, Ernest A., Renema, W. Klaas Jan, Peco, Ruben, Das, Anib, Steinfeld, Robert, Chan, Sharon, Wallis, Julie, Davidoff, Michail, Ullrich, Kurt, Waldschütz, Ralph, Heerschap, Arend, De Deyn, Peter P., Neubauer, Stefan, Isbrandt, Dirk   +15 more
openaire   +6 more sources

Reduced Inotropic Reserve and Increased Susceptibility to Cardiac Ischemia/Reperfusion Injury in Phosphocreatine-Deficient Guanidinoacetate- N -Methyltransferase–Knockout Mice [PDF]

Circulation, 2005
Background— The role of the creatine kinase (CK)/phosphocreatine (PCr) energy buffer and transport system in heart remains unclear. Guanidinoacetate- N -methyltransferase–knockout (GAMT −/− ) mice represent a new model of profoundly altered cardiac ...
ten Hove, M, Lygate, C, Fischer, A, Schneider, J, Sang, A, Hulbert, K, Sebag-Montefiore, L, Watkins, H, Clarke, K, Isbrandt, D, Wallis, J, Neubauer, S   +11 more
openaire   +3 more sources

Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine synthesis disorder caused by biallelic pathogenic variants in GAMT. Early diagnosis and treatment can lead to normal neurocognitive outcomes, which has prompted its recent addition to the Recommended Uniform Screening Panel.
Angela Lee, Judith Weisenberg, Elizabeth Toolan, Marwan Shinawi   +3 more
wiley   +2 more sources

A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF. [PDF]

J Inherit Metab Dis
ABSTRACT Metabolic testing of cerebrospinal fluid (CSF) is essential for early diagnosis of neurometabolic disorders. However, the large number of differential diagnoses, the phenotypic variance within a clinical picture, and the disease rarity complicate targeted metabolic diagnostics.
Christ S, Rossmann J, Richter S, Garbade S, Klinke G, Blau N, Hoffmann GF, Okun JG, Opladen T.   +8 more
europepmc   +2 more sources

Influence of homoarginine on creatine accumulation and biosynthesis in the mouse

Frontiers in Nutrition, 2022
Organisms obtain creatine from their diet or by de novo synthesis via AGAT (L-arginine:glycine amidinotransferase) and GAMT (Guanidinoacetate N-methyltrasferase) in kidney and liver, respectively.
Craig A. Lygate, Hannah A. Lake, Debra J. McAndrew, Stefan Neubauer, Sevasti Zervou   +4 more
doaj   +1 more source

A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency. [PDF]

J Inherit Metab Dis
ABSTRACT Nonketotic hyperglycinemia is a severe neonatal epileptic encephalopathy caused by deficient glycine cleavage enzyme activity, for which currently no effective treatment exists. Incomplete understanding of brain biochemistry represents a major knowledge gap to develop new treatments.
Swanson MA, Jiang H, Kolora LD, Molino R, Reisdorph R, Michel CR, Doenges KA, Leung KY, Lin X, Wong F, Lancaster S, Michael B, Snyder M, Hock DH, Stroud DA, Wood T, Binard R, Anderson-Lehman L, Christians U, Arning E, Friederich MW, Van Hove RA, MacLean KN, Greene NDE, Van Hove JLK.   +24 more
europepmc   +2 more sources

86583 The role of creatine in developmental myelination and remyelination

Journal of Clinical and Translational Science, 2021
IMPACT: This study highlights the importance of creatine in developmental myelination and remyelination to investigate whether creatine provides a therapeutic value during a central nervous system (CNS) demyelinating insult with a potential value in ...
Lauren Rosko, Tyler Gentile, Victoria Smith, Jeffrey K. Huang   +3 more
doaj   +1 more source

From broiler breeder hen feed to the egg and embryo: The molecular effects of guanidinoacetate supplementation on creatine transport and synthesis

Poultry Science, 2020
Supplementation of broiler breeder hens with beneficial additives bears great potential for affecting nutrient deposition into the fertile egg. Guanidinoacetate (GAA) is the endogenous precursor of creatine that is used as a feed additive for improving ...
Naama Reicher, Tomer Epstein, Dor Gravitz, Avigdor Cahaner, Meike Rademacher, Ulrike Braun, Zehava Uni   +6 more
doaj   +1 more source

Guanidine acetic acid exhibited greater growth performance in younger (13–30 kg) than in older (30–50 kg) lambs under high-concentrate feedlotting pattern

Frontiers in Veterinary Science, 2022
Guanidine acetic acid (GAA) is increasingly considered as a nutritional growth promoter in monogastric animals. Whether or not such response would exist in rapid-growing lambs is unclear yet. The objective of this study was to investigate whether dietary
Wen-Juan Li, Qi-Chao Wu, Zhao-Yang Cui, Yao-Wen Jiang, Ailiyasi Aisikaer, Fan Zhang, He-Wei Chen, Wei-Kang Wang, Yan-Lu Wang, Liang-Kang Lv, Feng-Liang Xiong, Ying-Yi Liu, Sheng-Li Li, Hong-Jian Yang   +13 more
doaj   +1 more source

Identification of candidate genomic regions for chicken egg number traits based on genome-wide association study

BMC Genomics, 2021
Background Since the domestication of chicken, various breeds have been developed for food production, entertainment, and so on. Compared to indigenous chicken breeds which generally do not show elite production performance, commercial breeds or lines ...
Xiurong Zhao, Changsheng Nie, Jinxin Zhang, Xinghua Li, Tao Zhu, Zi Guan, Yu Chen, Liang Wang, Xue Ze Lv, Weifang Yang, Yaxiong Jia, Zhonghua Ning, Haiying Li, Changqing Qu, Huie Wang, Lujiang Qu   +15 more
doaj   +1 more source