ArticleAmerican journal of human genetics2002
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 106 citations in OpenAlex.
- Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT).Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Creatine transporter (SLC6A8) knockout mice exhibit reduced muscle performance, disrupted mitochondrial CaCell death & disease · 2025Article
- Editorial: Chloride homeostasis in animal cell physiology.Frontiers in physiology · 2023Article
- SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.Human genetics · 2022Article
- Treatment experience in two adults with creatinfe transporter deficiency.Molecular genetics and metabolism reports · 2021Article
- SLC6A8 is involved in the progression of non-small cell lung cancer through the Notch signaling pathway.Annals of translational medicine · 2021Article
- Serum- and glucocorticoid-inducible kinase 1 activity reduces dendritic spines in dorsal hippocampus.Neuroscience letters · 2020Article
- The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.Frontiers in synaptic neuroscience · 2020Review
- Creatine for the Treatment of Depression.Biomolecules · 2019Review
- Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome.Medicine · 2018Article
- Creatine and pyruvate prevent the alterations caused by tyrosine on parameters of oxidative stress and enzyme activities of phosphoryltransfer network in cerebral cortex of Wistar rats.Molecular neurobiology · 2015Article
- X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Journal of inherited metabolic disease · 2014Review
- Article
- A novel mouse model of creatine transporter deficiency.F1000Research · 2014Article
- The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.Human genetics · 2013Article
- Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.BMC medical genetics · 2013Article
- Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.Journal of inherited metabolic disease · 2013Article
- Creatine and pyruvate prevent behavioral and oxidative stress alterations caused by hypertryptophanemia in rats.Molecular and cellular biochemistry · 2012Article
- Downregulation of the creatine transporter SLC6A8 by JAK2.The Journal of membrane biology · 2012Article
- Pyruvate and creatine prevent oxidative stress and behavioral alterations caused by phenylalanine administration into hippocampus of rats.Metabolic brain disease · 2012Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
A family with X-linked mental retardation characterized by severe mental retardation, speech and behavioral abnormalities, and seizures in affected male patients has been found to have a G1141C transversion in the creatine-transporter gene SLC6A8. This mutation results in a glycine being replaced by an arginine (G381R) and alternative splicing, since the G-->C transversion occurs at the -1 position of the 5' splice junction of intron 7. Two female relatives who are heterozygous for the SLC6A8 mutation also exhibit mild mental retardation with behavior and learning problems. Male patients with the mutation have highly elevated creatine in their urine and have decreased creatine uptake in fibroblasts, which reflects the deficiency in creatine transport. The ability to measure elevated creatine in urine makes it possible to diagnose SLC6A8 deficiency in male patients with mental retardation of unknown etiology.
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