Results 21 to 30 of about 1,441 (115)
Background Triple-negative breast cancer (TNBC) is the most aggressive subtype of breast cancer, with poor prognosis and limited treatment options. Hypoxia is a key hallmark of TNBC.
Qiao Li +7 more
doaj +1 more source
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
The discovery of a new neurotransmitter, especially one in the central nervous system, is both important and difficult. We have been searching for new neurotransmitters for 12 y.
Xiling Bian +7 more
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Mutations in the solute carrier family 6-member 8 (Slc6a8) gene, encoding the protein responsible for cellular creatine (Cr) uptake, cause Creatine Transporter Deficiency (CTD), an X-linked neurometabolic disorder presenting with intellectual disability,
Elsa Ghirardini +15 more
doaj +1 more source
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
Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the SLC6A8 gene. The impaired creatine uptake in the brain results in intellectual disability, behavioral disorders, language delay, and seizures.
Léa Broca-Brisson +15 more
doaj +1 more source
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
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
Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes
AGAT and GAMT, the two enzymes of the creatine synthesis pathway, are well expressed within CNS, suggesting autonomous brain creatine synthesis. This contradicts SLC6A8 deficiency, which causes creatine deficiency despite CNS expression of AGAT and GAMT.
Olivier Braissant +3 more
doaj +1 more source
Upregulation of the Creatine Transporter Slc6A8 by Klotho
Background/Aims: The transmembrane Klotho protein contributes to inhibition of 1,25(OH)2D3 formation. The extracellular domain of Klotho protein could function as an enzyme with e.g. β-glucuronidase activity, be cleaved off and be released into blood and
Ahmad Almilaji +8 more
doaj +1 more source

