Novel translational phenotypes and biomarkers for creatine transporter deficiency. [PDF]
Brain Commun, 2020 Abstract Creatine transporter deficiency is a metabolic disorder characterized by intellectual disability, autistic-like behaviour and epilepsy. There is currently no cure for creatine transporter deficiency, and reliable biomarkers of translational value for monitoring disease progression and response to therapeutics are sorely lacking.
Mazziotti R +11 more
europepmc +12 more sources
Myocardial creatine levels do not influence response to acute oxidative stress in isolated perfused heart. [PDF]
PLoS ONE, 2014 Multiple studies suggest creatine mediates anti-oxidant activity in addition to its established role in cellular energy metabolism. The functional significance for the heart has yet to be established, but antioxidant activity could contribute to the ...
Dunja Aksentijević +6 more
doaj +10 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
Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency [PDF]
eLife, 2023 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 +2 more sources
Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review [PDF]
Brain Sciences, 2023 (1) Background: X-linked creatine transporter deficiency (CTD) (OMIM 300036) is a rare group of inherited metabolic disorders characterized by global developmental delay/intellectual disability (GDD/ID), seizures, autistic behavior, and movement ...
Jiaqing Li, Sanqing Xu
doaj +2 more sources
Early Indicators of Creatine Transporter Deficiency. [PDF]
J Pediatr, 2019 Early identification is a goal for creatine transporter deficiency and will be critical for future treatment. Before their first birthday, one-half of this sample showed both a significant feeding/weight gain issue and delayed sitting or crawling. Combined, these early indicators could have alerted providers to conduct a urine screen.
Miller JS +9 more
europepmc +4 more sources
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 +3 more sources
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency [PDF]
Molecular Genetics and Metabolism Reports, 2023 Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay.
Samar Rahhal +14 more
doaj +2 more sources
Selective Alteration of the Left Arcuate Fasciculus in Two Patients Affected by Creatine Transporter Deficiency [PDF]
Brain Sciences(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
Maurizio Balestrino +3 more
doaj +2 more sources
Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency [PDF]
Acta Neuropathologica Communications, 2023 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 +2 more sources