Results 41 to 50 of about 612,233 (251)

X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model. [PDF]

Genet Med, 2021
Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). CTD features include developmental delay, seizures, and autism spectrum disorder.
Levin MD, Bianconi S, Smith A, Cawley NX, Do AD, Hammond D, Grafstein JF, Thurm A, Miller J, Perreault J, Noguchi A, Springer D, Kozel BA, Spurney CF, Wassif CA, Yu ZX, Schulze A, Porter FD, Hannah-Shmouni F.   +18 more
europepmc   +2 more sources

Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts [PDF]

Pharmacology Research & Perspectives, 2019
Creatine transporter deficiency (CTD) is a metabolic disorder resulting in cognitive, motor, and behavioral deficits. Cyclocreatine (cCr), a creatine analog, has been explored as a therapeutic strategy for the treatment of CTD.
Kirill Gorshkov, Amy Q. Wang, Wei Sun, Ethan Fisher, Marta Frigeni, Marc Singleton, Natasha Thorne, Bradley Class, Wenwei Huang, Nicola Longo, Minh‐Ha T. Do, Elizabeth A. Ottinger, Xin Xu, Wei Zheng   +13 more
doaj   +2 more sources

X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome [PDF]

The American Journal of Human Genetics, 2001
We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. Proton magnetic-resonance spectroscopy of his brain revealed absence of the creatine signal.
Salomons, Gajja S., van Dooren, Silvy J.M., Verhoeven, Nanda M., Cecil, Kim M., Ball, William S., Degrauw, Ton J., Jakobs, Cornelis   +6 more
openaire   +4 more sources

Impaired brain glucose metabolism as a biomarker for evaluation of dodecyl creatine ester in creatine transporter deficiency: Insights from patient brain-derived organoids and in vivo [18F]FDG PET imaging in a mouse model

Neurobiology of Disease
Creatine transporter deficiency (CTD) is an inborn error of creatine (Cr) metabolism in which Cr is not properly distributed to the brain due to a mutation in the Cr transporter (CrT) SLC6A8 gene.
Clémence Disdier, Amélie Soyer, Léa Broca-Brisson, Sébastien Goutal, Anne-Cécile Guyot, Nora Ziani, Louise Breuil, Alexandra Winkeler, Gaëlle Hugon, Thomas Joudinaud, Henri Bénech, Jean Armengaud, Matthew R. Skelton, Rania Harati, Rifat A. Hamoudi, Nicolas Tournier, Aloïse Mabondzo   +16 more
doaj   +2 more sources

Dodecyl Creatine Ester and Lipid Nanocapsule: A Double Strategy for the Treatment of Creatine Transporter Deficiency [PDF]

Nanomedicine, 2014
Creatine transporter (CT) deficiency is characterized by mutations in the gene encoding CT, leading to impaired transport of creatine at the cell membrane. Patients with this disease would thus benefit from replenishment of creatine inside the brain cells.We report a therapeutic strategy based on the use of dodecyl creatine ester incorporated into ...
Trotier-Faurion, Alexandra, Passirani-Malleret, Catherine, Bejaud, Jérôme, Dézard, Sophie, Valayannopoulos, Vassili, Taran, Fréderic, de Lonlay, Pascale, Benoit, Jean-Pierre, Mabondzo, Aloïse   +8 more
openaire   +6 more sources

X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8

Annals of Neurology, 2002
AbstractAmong creatine deficiency syndromes, an X‐linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a ...
Bizzi, A., Bugiani, M., Salomons, G. S., Hunneman, Donald H., Moroni, I., Estienne, M., Danesi, U., Jakobsen, Jannik E., Uziel, G.   +8 more
openaire   +4 more sources

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case. [PDF]

J Dev Behav Pediatr, 2016
Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene. CTD is identified by elevated urine creatine/creatinine (Cr/Crn) ratio or reduced Cr peak on brain magnetic ...
Thurm A, Himelstein D, DʼSouza P, Rennert O, Jiang S, Olatunji D, Longo N, Pasquali M, Swedo S, Salomons GS, Carrillo N.   +10 more
europepmc   +6 more sources

Genetic Determinants of Creatine Bioavailability and Responsiveness: Emphasis on Common Low-Impact Variants

Lifestyle Genomics
Background: Creatine is a central regulator of cellular energy homeostasis and one of the most extensively studied dietary supplements in human nutrition.
Sergej M. Ostojic, Ivana Kavecan
doaj   +2 more sources

Development of A Gene Therapy for Creatine Transporter Deficiency

Cerebral creatine deficiency syndromes are a group of genetic disorders caused by the inability to synthesize or transport creatine, leading to a severe depletion of creatine in the brain. Creatine transporter deficiency is one of the three Cerebral creatine deficiency syndromes caused by loss of function mutations in the X-linked SLC6A8 gene.
Webster, Troy
openaire   +2 more sources

Urine creatine metabolite panel as a screening test in neurodevelopmental disorders

Orphanet Journal of Rare Diseases, 2020
Background Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders.
Shalini Bahl, Dawn Cordeiro, Lauren MacNeil, Andreas Schulze, Saadet Mercimek-Andrews   +4 more
doaj   +1 more source