Results 31 to 40 of about 2,677 (178)
High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation [PDF]
The American Journal of Human Genetics, 2004 A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine transporter gene, SLC6A8. We have studied the prevalence of SLC6A8 mutations in a panel of 290 patients with nonsyndromic XLMR archived by the European XLMR Consortium.
Rosenberg, E. +11 more
openaire +5 more sources
Frontiers in Molecular Neuroscience, 2023 Creatine transporter deficiency (CTD), a leading cause of intellectual disability is a result of the mutation in the gene encoding the creatine transporter SLC6A8, which prevents creatine uptake into the brain, causing mental retardation, expressive ...
Aloïse Mabondzo +19 more
doaj +1 more source
A creatine efflux transporter in oligodendrocytes. [PDF]
FEBS JCreatine deficiency leads to severe neurodevelopmental disorders. In the brain, creatine is synthesized by oligodendrocytes to supply neighboring neurons. While SLC6A8 mediates neuronal uptake, the creatine release mechanism was unclear. Our results establish SLC22A15 as a key creatine efflux transporter.
Flögel S +3 more
europepmc +2 more sources
PIKfyve in the SGK1 Mediated Regulation of the Creatine Transporter SLC6A8 [PDF]
Cellular Physiology and Biochemistry, 2007 The Na(+),Cl(-),creatine transporter CreaT (SLC6A8) mediates concentrative cellular uptake of creatine into a wide variety of cells. Previous observations disclosed that SLC6A8 transport activity is enhanced by mammalian target of rapamycin (mTOR) at least partially through the serum and glucocorticoid inducible kinase isoforms SGK1 and SGK3. As SLC6A8
Nathalie, Strutz-Seebohm +5 more
openaire +2 more sources
Technology in Cancer Research & Treatment, 2020 Liver cancer is considered the sixth most commonly diagnosed cancer and the fourth leading cause of cancer-related deaths worldwide. Currently, there is no specific and effective therapy for hepatocellular carcinoma.
Lu Yuan MD +8 more
doaj +1 more source
Scientific Reports, 2021 Creatine is an organic compound used as fast phosphate energy buffer to recycle ATP, important in tissues with high energy demand such as muscle or brain.
Lara Duran-Trio +9 more
doaj +1 more source
X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome [PDF]
The American Journal of Human Genetics, 2001 We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. Proton magnetic-resonance spectroscopy of his brain revealed absence of the creatine signal.
Salomons, Gajja S. +6 more
openaire +2 more sources
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review. [PDF]
, 2008 Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy.
Braissant, O., Henry, H.
core +1 more source
Italian Journal of Animal Science, 2022 The objective of this study was to evaluate the interaction of guanidinoacetic acid (GAA) with standardised ileal digestible methionine + cysteine (SID Met + Cys) levels in finishing pig diets on the performance, carcase characteristics, pork quality ...
Natália Yoko Sitanaka +6 more
doaj +1 more source
OncoImmunology, 2023 Pancreatic cancer (PC) is featured with low survival rate and poor outcomes. Herein, we found that the expression of caspase-recruitment domain-containing protein 9 (CARD9), predominantly expressed in innate immune cells, was positively related to the ...
Cheng Tian +10 more
doaj +1 more source