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

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

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...

書誌詳細
主要な著者:	Schmidt, A, Marescau, B, Boehm, E, Renema, W, Peco, R, Das, A, Steinfeld, R, Chan, S, Wallis, J, Davidoff, M, Ullrich, K, Waldschütz, R, Heerschap, A, De Deyn, P, Neubauer, S, Isbrandt, D
フォーマット:	Journal article
言語:	English
出版事項:	2004

類似資料

A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism
著者:: Halil İbrahim Aydın, 等
出版事項: (2019-02-01)

Cardiac structure and function during ageing in energetically compromised Guanidinoacetate N-methyltransferase (GAMT)-knockout mice – a one year longitudinal MRI study
著者:: Clarke Kieran, 等
出版事項: (2008-02-01)

Cardiac structure and function during ageing in energetically compromised Guanidinoacetate N-methyltransferase (GAMT)-knockout mice - a one year longitudinal MRI study.
著者:: Schneider, J, 等
出版事項: (2008)

Guanidinoacetate methyltransferase (GAMT) deficiency, a cerebral creatine deficiency syndrome: A rare treatable metabolic disorder
著者:: Sangeetha Yoganathan, 等
出版事項: (2020-01-01)

Guanidinoacetate Methyltransferase Deficiency
著者:: Eduardo P. Marques, 等
出版事項: (2016-10-01)

Age-Dependent Decline in Cardiac Function in Guanidinoacetate-N-Methyltransferase Knockout Mice
著者:: Dunja Aksentijević, 等
出版事項: (2020-01-01)

Reduced inotropic reserve and increased susceptibility to cardiac ischemia/reperfusion injury in phosphocreatine-deficient guanidinoacetate-N-methyltransferase-knockout mice.
著者:: ten Hove, M, 等
出版事項: (2005)

Age-dependent decline in cardiac function in guanidinoacetate-N-methyltransferase knockout mice
著者:: Aksentijević, D, 等
出版事項: (2019)

COMPENSATION FOR IMPAIRED MYOCARDIAL PHOSPHOTRANSFER IN GUANIDINOACETATE-N-METHYLTRANSFERASE KNOCKOUT MICE
著者:: Aksentijevic, D, 等
出版事項: (2010)

Guanidinoacetate N-methyltransferase-knockout mice completely lacking myocardial phosphocreatine show normal in vivo cardiac function, but increased susceptibility to ischemia/reperfusion injury
著者:: Lygate, C, 等
出版事項: (2004)

Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development
著者:: Layane Hanna-El-Daher, 等
出版事項: (2015-07-01)

Activation of GABAA Receptors by Guanidinoacetate: A Novel Pathophysiological Mechanism
著者:: Axel Neu, 等
出版事項: (2002-11-01)

Guanidinoacetate N-methyltransferase deficiency: Case report and brief review of the literature
著者:: Joshua L. Libell, BS, 等
出版事項: (2023-12-01)

Processing mechanism of guanidinoacetate in choroid plexus epithelial cells: conversion of guanidinoacetate to creatine via guanidinoacetate N-methyltransferase and monocarboxylate transporter 12-mediated creatine release into the CSF
著者:: Ryuta Jomura, 等
出版事項: (2022-06-01)

Unchanged Mitochondrial Organization and Compartmentation in Creatine Deficient GAMT-/- Mouse Heart
著者:: Branovets, J, 等
出版事項: (2013)

Case series of creatine deficiency syndrome due to guanidinoacetate methyltransferase deficiency
著者:: Vinu Narayan, 等
出版事項: (2020-01-01)

Adaptations to Maintain Energy Homeostasis Compensate for Creatine-Deficiency in GAMT Knockout Mice Following Myocardial Infarction, but May Contribute to Early Mitochondrial Pathology During Aging
著者:: Lygate, C, 等
出版事項: (2011)

Hearts from gamt ko mice lack phospho-creatine, show reduced inotropic reserve and are more prone to ischemia
著者:: ten Hove, M, 等
出版事項: (2005)

Guanidino acid hydrolysis by the human enzyme annotated as agmatinase
著者:: Malte Sinn, 等
出版事項: (2022-12-01)

Unchanged mitochondrial organization and compartmentation of high-energy phosphates in creatine-deficient GAMT-/- mouse hearts.
著者:: Branovets, J, 等
出版事項: (2013)

Adsorption Properties of Silica with Chemically Bonded Amino and Guanidino Groups
著者:: T.M. Roshchina, 等
出版事項: (1997-04-01)

Guanidinoacetate methyltransferase deficiency: A treatable cause of developmental delay diagnosed by magnetic resonance spectroscopy
著者:: L Caroline Silvia, 等
出版事項: (2022-01-01)

Adult GAMT deficiency: A literature review and report of two siblings
著者:: Bhavi P. Modi, 等
出版事項: (2021-06-01)

Electrode mechanism and voltammetric determination of selected guanidino compounds
著者:: Skrzypek Sławomira
出版事項: (2012-08-01)

GUANIDINOACETATE N-METHYLTRANSFERASE KNOCKOUT MICE EXHIBIT NORMAL LEFT VENTRICULAR REMODELLING, HAEMODYNAMICS AND SURVIVAL AFTER MYOCARDIAL INFARCTION DESPITE LACK OF PHOSPHOCREATINE
著者:: Lygate, C, 等
出版事項: (2010)

Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities
著者:: Suhail Khoja, 等
出版事項: (2022-06-01)

Synthesis and properties of amino- and guanidino-peptoid peptide nucleic acids
著者:: Lu, Xiao Wei
出版事項: (2010)

Role of Generation on Successful DNA Delivery of PAMAM–(Guanidino)Neomycin Conjugates
著者:: Nina Bono, 等
出版事項: (2019-04-01)

Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies
著者:: Graham B. Sinclair PhD, FCCMG, 等
出版事項: (2016-09-01)

The Potential of Guanidino Acetic Acid to Reduce the Occurrence and Severity of Broiler Muscle Myopathies
著者:: Edgar Orlando Oviedo-Rondón, 等
出版事項: (2020-08-01)

Effects of dietary guanidinoacetic acid on growth performance, guanidinoacetic acid absorption and creatine metabolism of lambs.
著者:: Shiqi Zhang, 等
出版事項: (2022-01-01)

Effects of dietary guanidinoacetic acid on growth performance, guanidinoacetic acid absorption and creatine metabolism of lambs
著者:: Shiqi Zhang, 等
出版事項: (2022-01-01)

The relationship between guanidino acetic acid and metabolisable energy level of diets on performance of broiler chickens
著者:: Alaeldein M. Abudabos, 等
出版事項: (2014-07-01)

Identification of disulfidptosis-related subtypes in gastric cancer and GAMT is a key gene during disulfidptosis
著者:: Wenxue Wu, 等
出版事項: (2025-01-01)

Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes
著者:: Olivier Braissant, 等
出版事項: (2010-02-01)

4-(3-Alkyl/benzyl-guanidino)benzenesulfonamides as selective carbonic anhydrase VII inhibitors
著者:: Morteza Abdoli, 等
出版事項: (2022-12-01)

Effect of Guanidino Acetic Acid Consumption and Management Methods on the Reproductive Potential of Elderly Cockerel Broiler Breeders
著者:: Yaghobfar A, 等
出版事項: (2019-12-01)

Aqueous Electrochemical and pH Studies of Redox-Active Guanidino Functionalized Aromatics for CO2 Capture
著者:: Clarabella J. Li, 等
出版事項: (2024-03-01)

The Activity of PHMB and Other Guanidino Containing Compounds against <i>Acanthamoeba</i> and Other Ocular Pathogens
著者:: Dharanga Ratnayake, 等
出版事項: (2022-07-01)

Effect of Guanidinoacetic Acid Supplementation on the Performance of Calves Fed Milk Replacer
著者:: Kathryn J. Hazlewood, 等
出版事項: (2024-09-01)