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Results show that the loss of cerebral Cr is responsible for the learning and memory deficits seen in ubiquitous Slc6a8(-/y) mice.
There were no changes in mitochondrial respiration when normalized to mitochondrial number, suggesting that the increase in respiration observed could be to higher mitochondrial content in Crt (-/y) mice
Our data suggest that brain Cr depletion causes both early intellectual disability and late progressive cognitive decline, and identify novel targets to design intervention strategies aimed at overcoming brain CCDS1 alterations.
Ubiquitous CrT knockout mice have learning and memory deficits resembling human CrT deficiency
myocardial creatine transporter has a role in progressive heart failure and decreased glycolytic capacity
AMPK 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 induction of creatine transport activity by hypertonicity is not confined to muscle cells: a similar induction was shown in porcine endothelial cells.
Thus, the creatine transporter is required for creatine uptake through the plasma membrane of brain neurons.
This study reveals the presence of a novel SLC6A8 splice variant, SLC6A8C in human and mouse.
A novel SLC6A8 mutation associated with intellectual disabilities was detected in a Chinese family exhibiting creatine transporter deficiency.
Distal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature.
Measurements of creatine and guanidinoacetate in plasma are recommended for the diagnosis of AGAT and GAMT deficiency.Definitive confirmation of the diagnosis requires DNA sequencing of the appropriate gene and (if molecular analysis is ambiguous) measurement of AGAT or GAMT enzyme activity or of CRTR-mediated transport
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, a ubiquitous sensor of energy depletion. [REVIEW]
both BCAP31 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 deficiency
Klotho protein up-regulates the activity of creatine transporter CreaT (Slc6A8) by stabilizing the carrier protein in the cell membrane
Both SPAK and OSR1 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.
Understanding the pathogenesis of creatine transporter deficiency is of paramount importance in the development of an effective treatment
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 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.
a de novo mutation in the SLC6A8 gene in 101 males with X-linked creatine transporter deficiency
study identified a second creatine transporter monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12; Rssults show SLC6A8 was predominantly found in brain, heart and muscle, while SLC16A12 was more abundant in kidney and retina. In the lens, the two transcripts were found at comparable levels.
a 1104 bp sequence proximal to the mRNA start site of the SLC6A8 gene with promoter activity in five cell types was identified.
SLC6A8 mutants displayed no electrogenic activity with all Cr analogs tested in X. laevis oocytes.
report the first two Spanish adult patients with creatine transporter deficiency and compare their clinical phenotype and the evolution of the disease with those of other published cases
Missense mutations in SLC6A8 gene is associated with X-linked disorder.
GSK3ss down-regulates the creatine transporter CreaT, an effect reversed by treatment with the antidepressant Lithium and by co-expression of PKB/Akt.
Mammalian target of rapamycin (mTOR) stimulates the creatine transporter SLC6A8 through mechanisms at least partially shared by the serum and glucocorticoid-inducible kinase SGK1.
The observations suggest that SGK1 regulates the creatine transporter SLC6A8 at least partially through phosphorylation and activation of PIKfyve.
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