Results 71 to 80 of about 1,686 (146)

GUANIDINOACETATE N-METHYLTRANSFERASE KNOCKOUT MICE EXHIBIT NORMAL LEFT VENTRICULAR REMODELLING, HAEMODYNAMICS AND SURVIVAL AFTER MYOCARDIAL INFARCTION DESPITE LACK OF PHOSPHOCREATINE [PDF]

Heart, 2016
Lygate, C, Dawson, D, Medway, D, Sebag-Montefiore, L, Neubauer, S   +4 more
openaire   +2 more sources

High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment?

, 2006
Cerebral creatine and guanidinoacetate and blood and urine metabolites were studied in four patients with argininosuccinate synthetase (ASS) or argininosuccinate lyase (ASL) deficiency receiving large doses of arginine. Urine and blood metabolites varied
Verhoeven, N. M., Soorani-Lunsing, R. J., Reijngoud, D. J., Jakobs, C., van Spronsen, F. J., Reijngoud, D. J.; id_orcid, Sijens, P. E.   +6 more
core   +1 more source

Systemic availability of guanidinoacetate affects GABAA receptor function and seizure threshold in GAMT deficient mice.

, 2016
Deficiency of guanidinoacetate methyltransferase (GAMT) causes creatine depletion and guanidinoacetate accumulation in brain with the latter deemed to be responsible for the severe seizure disorder seen in affected patients.
Patel, V., Tran, C., Schulze, A., Levandovskiy, V., Cortez, M.A.   +4 more
core   +1 more source

A mutation on exon 6 of guanidinoacetate methyltrasferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.

, 2006
A new patient aVected by Guanidinoacetate methyltransferase (GAMT) deWciency was reported. This 13-year-old girl presented with mental retardation, as main symptom, associated with a typical pattern of biochemical and neurochemical (brain magnetic ...
BIANCHI MC, CARDUCCI, Carla, DI SABATO ML, MATRICARDI, Maria, CARDUCCI, Claudia, ARTIOLA C, LEUZZI, Vincenzo, ANTONOZZI, Italo   +7 more
core   +1 more source

Epileptic and electroencephalographic manifestations of guanidinoacetate-methyltransferase deficiency

, 2013
Aim. Describe the seizure-related manifestations of guanidinoacetate methyltransferase (GAMT) deficiency in two new cases and compare these to the related literature. Methods.
Karam P.E., Abu Gheida I., Mikati A.G., Mikati M.A., Shamseddine A.   +4 more
core   +1 more source

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene

, 2014
International audienceGuanidinoacetate methyltransferase deficiency (GAMT-D) is an autosomal recessively inherited disorder of creatine biosynthesis. Creatine deficiency on cranial proton magnetic resonance spectroscopy, and elevated guanidinoacetate ...
Hendriks, Yvonne, Hofstede, F. C., Salomons, GS, Salomons, G. S., Ndika, J, Salomons, Gajja S., Valayannopoulos, V., Kanhai, Warsha, de Villemeur, T.B., Hendriks, Y.M.C., Lund, A.M., Szakszon, K, Kanhai, W., Villemeur, T. B.,, Dorison, N., Hannig, V, Dorison, Nathalie, Hofstede, Floris C., Mahmutoglu, S., Lion-Francois, L., Lund, A. M., Scott-Schwoerer, J. A., Raspall-Chaure, M, Pitelet, G., Williams, M., Hannig, V., Pitelet, Gaele, Christensen, Ernst, Raspall-Chaure, M., Hannig, Vickie, Christensen, E., Ndika, J., de Villemeur, TB, Raspall-Chaure, Miquel, Kanhai, W, Szakszon, K., Valayannopoulos, V, Dorison, N, Hendriks, Y, Christensen, E, Mundy, Helen, Mercimek-Mahmutoglu, Saadet, Cheillan, D., Mercimek-Mahmutoglu, S, Salomons, G.S., Scott-Schwoerer, JA, Hofstede, FC, Pitelet, G, Lion-Francois, Laurence, Mundy, H, Villemeur, T. B., De, Mundy, H., Ndika, Joseph, Cheillan, David, Szakszon, Katalin, Lion-Francois, L, Ndika, J.D.T., Lund, AM, Williams, Monique, de Villemeur, Thierry Billette, Scott-Schwoerer, J.A., Hofstede, F.C., Lund, Allan M., Hendriks, Y., Scott-Schwoerer, Jessica A., Valayannopoulos, Vassili, Cheillan, D, Mercimek-Mahmutoglu, S.   +67 more
core   +1 more source

Inhibition of Na+, K+-ATPase activity in rat striatum by guanidinoacetate

, 2003
The aim of this work was to investigate the effect of guanidinoacetate (GAA), the principal metabolite accumulating in guanidinoacetate methyltransferase (GAMT)-deficiency, on Na+, K+-ATPase, Mg2+-ATPase and acetylcholinesterase (AChE) activities in ...
Streck, Emilio Luiz, Wannmacher, Clovis Milton Duval, Wyse, Angela Terezinha de Souza, Wajner, Moacir, Stefanello, Francieli Moro, Zugno, Alexandra Ioppi, Calcagnotto, Thiago   +6 more
core  

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

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
Background: Guanidinoacetate (GAA) induces epileptogenesis and neurotoxicity in the brain. As epileptic animal models have been reported to show elevated cerebral GAA levels, the processing mechanism of GAA in the brain is important for maintaining brain homeostasis. We have revealed that GAA in the cerebrospinal fluid (CSF) is removed by incorporation
openaire  

The Immune Response in Mice to a scAAV9hGAMT Vector Used to Treat Guanidinoacetate Methyltransferase (GAMT) Deficiency

Guanidinoacetate methyltransferase deficiency (GAMT-D) is a rare autosomal recessive disorder that disrupts creatine biosynthesis, leading to neurological impairments due to creatine deficiency and guanidinoacetate (GAA) accumulation. Current treatments,
Da-Silva, Miranda
core  

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency. [PDF]

Int J Mol Sci
Binsfeld R, Webster T, Tkachyova I, Tropak M, Mitchell M, Peretti T, Schulze A, Walia JS.   +7 more
europepmc   +1 more source