Results 91 to 100 of about 13,220 (172)

Myocardial creatine metabolism in experimental infarction and heart failure [PDF]

, 2007
The failing heart is characterized by changes in structure, function and metabolism. All these changes are usually defined as pathologic remodelling.
Lindbom, Malin
core  

The creatine kinase system and pleiotropic effects of creatine [PDF]

, 2018
The pleiotropic effects of creatine (Cr) are based mostly on the functions of the enzyme creatine kinase (CK) and its high-energy product phosphocreatine (PCr).
Schlattner, Uwe, Tokarska-Schlattner, Malgorzata, Wallimann, Theo   +2 more
core  

FUNCTIONAL AND BIOCHEMICAL CONSEQUENCES OF SINGLE NUCLEOTIDE POLYMORPHISMS IN THE HUMAN VESICULAR MONOAMINE TRANSPORTER 1 GENE (SLC18A1) By Sally Gamal Shukry, B.S. [PDF]

, 2012
FUNCTIONAL AND BIOCHEMICAL CONSEQUENCES OF SINGLE NUCLEOTIDE POLYMORPHISMS IN THE HUMAN VESICULAR MONOAMINE TRANSPORTER 1 GENE (SLC18A1) By Sally Gamal Shukry, B.S. A thesis submitted in partial fulfillment of the requirements for the degree of Master of
Shukry, Sally Gamal
core   +1 more source

Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023

Molecular and Cellular Pediatrics
Background Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved in synthesis of creatine; or by a
Christina Kaufman, Anaïs D’Andrea, Annette Hackenberg, Martin Poms, Olivier Braissant, Johannes Häberle   +5 more
doaj   +1 more source

X-linked creatine transporter deficiency [PDF]

, 2020
openaire   +2 more sources

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter [PDF]

, 2017
Creatine transport has been assigned to creatine transporter 1 (CRT1), encoded by mental retardation associated SLC6A8. Here, we identified a second creatine transporter (CRT2) known as monocarboxylate transporter 12 (MCT12), encoded by the cataract and ...
Abplanalp, Jeannette, Berger, Wolfgang, Braun, Philipp, Camargo, Simone M.R., Kloeckener-Gruissem, Barbara, Laczko, Endre, Munier, Francis L., Neidhardt, John, Philp, Nancy J., Schorderet, Daniel F., Verrey, François, Zuercher, Jurian   +11 more
core  

[18F]FDG-PET and [18F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation

Scientific Reports
Pathogenic variants in the creatine transporter gene SLC6A8, reported to represent 2% of all intellectual disabilities in males, result in a spectrum of behavioral abnormalities including developmental delay, intellectual disability, and deficit in ...
Isabel Day, Mikayla Tamboline, Lindsay Lueptow, Irina Zhuravka, Taryn Diep, Ilona Tkachyova, Shili Xu, Andreas Schulze, Gerald S. Lipshutz   +8 more
doaj   +1 more source

Creatine Transporter Deficiency

, 2014
promotiedatum: 19-6-2014 prom-id ...
openaire   +2 more sources

Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study [PDF]

, 2001
Bachmann, C., Braissant, O., Eilers, B., Henry, H., Loup, M.   +4 more
core   +1 more source

X-linked creatine transporter deficiency

, 2014
promotiedatum: 7-3-2014 prom-id ...
openaire   +2 more sources