Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency
Sign Up to like & getrecommendations! Published in 2024 at "ACS Chemical Biology"
DOI: 10.1021/acschembio.4c00571
Abstract: Mutations in creatine transporter SLC6A8 cause creatine transporter deficiency (CTD), which is responsible for 2% of all cases of X-linked intellectual disability. CTD has no current treatments and has a high unmet medical need. Inspired… read more here.
Keywords: creatine transporter; transporter deficiency; corrector; transporter ... See more keywords
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
Sign Up to like & getrecommendations! Published in 2024 at "Neurology"
DOI: 10.1212/wnl.0000000000209243
Abstract: BACKGROUND AND OBJECTIVES Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and the impact of the disease… read more here.
Keywords: creatine transporter; developmental trajectory; clinical characteristics; language ... See more keywords
Epigenetic alterations in creatine transporter deficiency: a new marker for dodecyl creatine ester therapeutic efficacy monitoring
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2024.1362497
Abstract: Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the Slc6a8 gene. The impaired creatine uptake in the brain leads to developmental delays with intellectual disability. We hypothesized that deficient creatine uptake… read more here.
Keywords: creatine transporter; methylation; dodecyl creatine; creatine ... See more keywords
An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2025.1620586
Abstract: Over 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. Research projects have paved the way for clinical trials on… read more here.
Keywords: creatine transporter; questionnaire; research; transporter deficiency ... See more keywords
Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2023.1118707
Abstract: 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… read more here.
Keywords: plcb1; creatine; kif1a; brain ... See more keywords
The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Synaptic Neuroscience"
DOI: 10.3389/fnsyn.2020.588954
Abstract: 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. The key role of CRT1 is… read more here.
Keywords: creatine; deficiency; creatine transporter; crt1 ... See more keywords
Effects of Delivering Guanidinoacetic Acid or Its Prodrug to the Neural Tissue: Possible Relevance for Creatine Transporter Deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Brain Sciences"
DOI: 10.3390/brainsci12010085
Abstract: 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. However, increased GAA… read more here.
Keywords: creatine; gaa; transporter deficiency; creatine transporter ... See more keywords
Selective Alteration of the Left Arcuate Fasciculus in Two Patients Affected by Creatine Transporter Deficiency
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DOI: 10.3390/brainsci14040337
Abstract: (1) Background: In hereditary creatine transporter deficiency (CTD), there is an absence of creatine in the brain and neurological symptoms are present, including severe language impairment. However, the pathological changes caused by creatine deficiency that… read more here.
Keywords: creatine transporter; arcuate fasciculus; language; left arcuate ... See more keywords
Intestinal Epithelial Creatine Transporter SLC6A8 Dysregulation in Inflammation and in Response to Adherent Invasive E. coli Infection
Sign Up to like & getrecommendations! Published in 2024 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms25126537
Abstract: Creatine transporter (CrT1) mediates cellular uptake of creatine (Cr), a nutrient pivotal in maintaining energy homeostasis in various tissues including intestinal epithelial cells (IECs). The impact of CrT1 deficiency on the pathogenesis of various psychiatric… read more here.
Keywords: creatine transporter; crt1; infection; inflammation ... See more keywords