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Ubiquitous CrT knockout mice have learning and memory deficits resembling human CrT deficiency
AMPK (zeige PRKAA1 Proteine) inhibits apical membrane CRT/Slc6a8 expression in kidney proximal tubule cells, which could be important in reducing cellular energy expenditure and unnecessary creatine reabsorption under conditions of local and whole body metabolic stress.
This study reveals the presence of a novel SLC6A8 splice variant, SLC6A8C in human and mouse.
The present study demonstrated that a novel CRT missense mutation in exon 12 of the SLC6A8 gene (c.1681G>C; p.G561R) causes suppression of creatine transport activity
Data suggest that a specific plasma membrane transporter, creatine transporter (SLC6A8), enables cells to incorporate creatine; creatine uptake is controlled by AMP-activated protein kinase (zeige PRKAA2 Proteine), a ubiquitous sensor of energy depletion. [REVIEW]
both BCAP31 (zeige BCAP31 Proteine) and ABCD1 were associated with hepatic cholestasis and death before 1 year. Remarkably, a patient with an isolated deletion at the 3'-end of SLC6A8 had a similar severe phenotype as seen in BCAP31 (zeige BCAP31 Proteine) deficiency
Klotho (zeige KL Proteine) protein up-regulates the activity of creatine transporter CreaT (Slc6A8) by stabilizing the carrier protein in the cell membrane
Both SPAK (zeige STK39 Proteine) and OSR1 (zeige OXSR1 Proteine) are negative regulators of the creatine transporter SLC6A8
The SLC6A8 c.1654G>T (p.Val552Leu) variant showed low residual creatine uptake activity of 35% of wild type transfected HeLa cells.
It is likely that the (extracellular) structure of brain cells is also impaired in SLC6A8-deficient patients, and future studies are necessary to confirm this and to reveal the true functions of creatine in the brain.
CTR4 and CTR5 are possible regulators of the creatine transporter since their overexpression results in upregulated CTR1 (zeige SLC31A1 Proteine) protein and creatine uptake.
Combination of deep sequencing technology with long-range PCR revealed a novel intragenic duplication in the SLC6A8 gene, providing a definitive molecular diagnosis of creatine transporter deficiency in a male patient.
Creatine transporter deficiency is a relatively common genetic disorder in males with sporadic or familiar mental retardation and diagnostic screening of them should always include screening for SLC6A8 deficiency.
GSK3ss down-regulates the creatine transporter CreaT, an effect reversed by treatment with the antidepressant Lithium and by co-expression of PKB/Akt (zeige AKT1 Proteine).
Mammalian target of rapamycin (mTOR (zeige FRAP1 Proteine)) stimulates the creatine transporter SLC6A8 through mechanisms at least partially shared by the serum and glucocorticoid-inducible kinase SGK1 (zeige SGK1 Proteine).
The observations suggest that SGK1 (zeige SGK1 Proteine) regulates the creatine transporter SLC6A8 at least partially through phosphorylation and activation of PIKfyve (zeige PIKFYVE Proteine).
The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.
, creatine transporter 1
, sodium- and chloride-dependent creatine transporter 1
, solute carrier family 6 member 8
, solute carrier family 6 (neurotransmitter transporter, creatine), member 8
, Sodium- and chloride-dependent creatine transporter 1
, sodium- and chloride-dependent creatine transporter 1-like
, choline transporter
, creatine transporter, solute carrier family 6, member 8
, solute carrier family 6, member 8
, creatine transporter SLC6A8