Results 241 to 250 of about 26,802 (257)

The Creatine-Creatine Phosphate Shuttle for Energy Transport — Compartmentation of Creatine Phosphokinase in Muscle

1982
There are two viewpoints regarding the role of the enzyme creatine Phosphokinase (CPK), which catalyzes the reversible transphosphorylation of creatine and adenine nucleotides in energy transport. The classical viewpoint (Fig. 1) regards CPK as a near equilibrium enzyme buffering cytosolic changes in nucleotide concentration (1,2), with creatine ...
S, Erickson-Viitanen, P, Geiger, W C, Yang, S P, Bessman   +3 more
openaire   +2 more sources

Creatine transporter deficiency in two half‐brothers

American Journal of Medical Genetics Part A, 2010
AbstractX‐linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter encoded by the SLC6A8 gene. Here, we report two half‐brothers with this condition and characterize creatine transport in human fibroblasts. The propositus presented at 6 months of age with delays in development and slow progress since then with no ...
Ardon, O., di San Filippo, C.A., Salomons, G.S., Longo, N.   +3 more
openaire   +4 more sources

Creatine uptake and creatine transporter expression among rat skeletal muscle fiber types

American Journal of Physiology-Cell Physiology, 2003
Total creatine (Crtotal = phosphocreatine + creatine) concentrations differ substantially among mammalian skeletal muscle. Because the primary means to add Crtotal to muscle is uptake of creatine through the sodium-dependent creatine transporter (CrT), differences in creatine uptake and CrT expression could account for the variations in [Crtotal ...
Jeffrey J, Brault, Ronald L, Terjung
openaire   +2 more sources

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts

Analytical Biochemistry, 2008
Creatine transporter 1 (CT1) defect is an X-linked disease that causes severe neurological impairment. No treatment has been available for this condition so far. Because the transport of creatine (Cr) precursors Gly and Arg is not affected in this disorder, we tested the possible corrective effect of these two amino acids on Cr depletion in ...
Leuzzi V, Alessandri MG, Casarano M, Battini R, Cioni G   +4 more
openaire   +2 more sources

X‐linked creatine transporter defect: An overview

Journal of Inherited Metabolic Disease, 2003
AbstractSummary: In 2001 we identified a new inborn error of metabolism caused by a defect in the X‐linked creatine transporter SLC6A8 gene mapped at Xq28 (SLC6A8 deficiency, McKusick 300352). An X‐linked creatine transporter defect was presumed because of (1) the absence of creatine in the brain as indicated by proton magnetic resonance spectroscopy ...
G S, Salomons, S J M, van Dooren, N M, Verhoeven, D, Marsden, C, Schwartz, K M, Cecil, T J, DeGrauw, C, Jakobs   +7 more
openaire   +2 more sources

Functional Insights into the Creatine Transporter

2007
Creatine and phosphocreatine provide an intracellular, high-energy phosphate buffering system, essential to maintain ATP levels in tissues with high energy demands. A specific plasma membrane creatine transporter (CRT) is required for the cellular uptake of creatine.
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The clinical syndrome of creatine transporter deficiency

Molecular and Cellular Biochemistry, 2003
To describe the clinical, spectroscopic and neuropsychological features of the first family diagnosed with a defect in the creatine transporter. Proton Magnetic Resonance Spectroscopy (MRS) indicated an absence of creatine and phosphocreatine in the brain of a male patient characterized by developmental delay, mild epilepsy and severe expressive ...
Ton J, deGrauw, Kim M, Cecil, Anna W, Byars, Gajja S, Salomons, William S, Ball, Cornelis, Jakobs   +5 more
openaire   +2 more sources

Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency

Molecular Genetics and Metabolism, 2010
Creatine transporter (CRTR) deficiency is one of the most frequent causes of X-linked mental retardation. The lack of an effective treatment for this disease, in contrast to creatine (Cr) biosynthesis disorders that respond to Cr monohydrate (CM), led us to analyze the efficacy of a lipophilic molecule derived from Cr, creatine ethyl ester (CEE), in ...
Fons C, Arias A, Sempere A, Póo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch R, Campistol J, Ribes A   +13 more
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Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency

Neuroscience Letters, 2018
Creatine is pivotal in energy metabolism of the brain. In primary creatine deficiency syndromes, creatine is missing from the brain. Two of them (AGAT and GAMT deficiency) are due to impaired creatine synthesis, and can be treated by creatine supplementation.
Adriano, Enrico, Gulino, Maurizio, Arkel, Maria, Salis, Annalisa, Damonte, Gianluca, Liessi, Nara, Millo, Enrico, Garbati, Patrizia, Balestrino, Maurizio   +8 more
openaire   +2 more sources

CT, Creatine Transporter

2007
Robyn Murphy, Rod Snow
openaire   +1 more source