The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome [PDF]
Frontiers in Synaptic Neuroscience, 2020 Creatine provides cells with high-energy phosphates for the rapid reconstitution of hydrolyzed adenosine triphosphate. The eponymous creatine transporter (CRT1/SLC6A8) belongs to a family of solute carrier 6 (SLC6) proteins.
Clemens V. Farr +3 more
doaj +5 more sources
Case report: Clinical and magnetic resonance spectroscopy presentation of a female severely affected with X-linked creatine transporter deficiency [PDF]
Radiology Case Reports, 2022 Creatine transporter deficiency is an X-linked genetic disorder caused by a variant in the SLC6A8 gene located on the X chromosome (Xq28). This condition varies in severity with features often including intellectual disabilities, speech delay, autistic ...
Katherine Morey +2 more
doaj +2 more sources
Effects of Delivering Guanidinoacetic Acid or Its Prodrug to the Neural Tissue: Possible Relevance for Creatine Transporter Deficiency [PDF]
Brain Sciences, 2022 The creatine precursor guanidinoacetate (GAA) was used as a dietary supplement in humans with no adverse events. Nevertheless, it has been suggested that GAA is epileptogenic or toxic to the nervous system.
Enrico Adriano +4 more
doaj +2 more sources
An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research [PDF]
Frontiers in NeuroscienceOver the last 15 years, significant progress has been made for Creatine Transporter Deficiency (CTD) patients, with increased awareness and visibility, better diagnosis, and improved care.
Carole Chehowah +3 more
doaj +2 more sources
Treatment efficacy of high‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Creatine transporter deficiency is an inborn error of metabolism caused by a deficiency in the creatine transporter protein encoded by the SLC6A8 gene.
Kaili Shi +4 more
doaj +2 more sources
Reduction in cardiolipin reduces expression of creatine transporter-1 and creatine transport in growing hCMEC/D3 human brain microvessel endothelial cells [PDF]
Frontiers in Drug Delivery, 2023 The phospholipid cardiolipin (CL) regulates mitochondrial energy production. Endothelial cells of the blood-brain barrier (BBB) play a vital role in uptake of metabolites into the brain and are enriched in mitochondria.
Donald W. Miller +2 more
doaj +2 more sources
Cooperative Binding of Substrate and Ions Drives Forward Cycling of the Human Creatine Transporter-1 [PDF]
Frontiers in Physiology, 2022 Creatine serves as an ATP buffer and is thus an integral component of cellular energy metabolism. Most cells maintain their creatine levels via uptake by the creatine transporter (CRT-1, SLC6A8).
Clemens V. Farr +5 more
doaj +2 more sources
The Regulation and Expression of the Creatine Transporter: A Brief Review of Creatine Supplementation in Humans and Animals [PDF]
Journal of the International Society of Sports Nutrition, 2006 Creatine monohydrate has become one of the most popular ergogenic sport supplements used today. It is a nonessential dietary compound that is both endogenously synthesized and naturally ingested through diet. Creatine ingested through supplementation has
Greenwood Mike +2 more
doaj +2 more sources
A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism [PDF]
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 +2 more sources
Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency [PDF]
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 +2 more sources