Results 11 to 20 of about 612,233 (251)

Novel translational phenotypes and biomarkers for creatine transporter deficiency [PDF]

Brain Communications, 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.
Raffaele Mazziotti, Tommaso Pizzorusso, Laura Baroncelli   +2 more
exaly   +9 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, Giulia Sagona, Angel Marquez-Galera, Francesco Calugi, Carmen M. Navarron, Francesco Cacciante, Siwei Chen, Federica Di Vetta, Lorenzo Dadà, Raffaele Mazziotti, Leonardo Lupori, Elena Putignano, Pierre Baldi, Jose P. Lopez-Atalaya, Tommaso Pizzorusso, Laura Baroncelli   +15 more
doaj   +5 more sources

Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report [PDF]

Epilepsia Open
Creatine transporter deficiency (CRTR‐D) is a rare X‐linked inherited disease belonging to the group of cerebral creatine deficiency disorders. Major clinical features include developmental delay and epilepsy.
Maria Borrell‐Pichot, Carmen Fons, Susana Boronat, Alba Sierra‐Marcos   +3 more
doaj   +5 more sources

Dodecyl Creatine Ester-Loaded Nanoemulsion as a Promising Therapy for Creatine Transporter Deficiency [PDF]

Nanomedicine, 2019
Creatine transporter (CrT) deficiency is an X-linked intellectual disability caused by mutations of CrT. Aim: This work focus on the preclinical development of a new therapeutic approach based on a microemulsion (ME) as drug delivery system for dodecyl creatine ester (DCE). Materials & methods: DCE-ME was prepared by titration method.
Alain Pruvost, Kenea Udobi, Matthew Skelton   +2 more
exaly   +9 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, Enrico Adriano, Paolo Alessandro Alì, Matteo Pardini   +3 more
doaj   +4 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, Gabriella Fernandes-Pires, Dunja Simicic, Jocelyn Grosse, Clothilde Roux-Petronelli, Stephen J. Bruce, Pierre-Alain Binz, Carmen Sandi, Cristina Cudalbu, Olivier Braissant   +9 more
doaj   +4 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, Rania Harati, Rania Harati, Léa Broca-Brisson, Anne-Cécile Guyot, Narciso Costa, Francesco Cacciante, Elena Putignano, Laura Baroncelli, Laura Baroncelli, Matthew R. Skelton, Cathy Saab, Emmanuelle Martini, Henri Benech, Thomas Joudinaud, Jean-Charles Gaillard, Jean Armengaud, Rifat Hamoudi, Rifat Hamoudi, Rifat Hamoudi   +19 more
doaj   +3 more sources

How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency [PDF]

Frontiers in Neuroscience
The current era of drug development has evolved significantly. Patient advocacy organizations are moving beyond simply supporting community members and are taking the reins to improve the speed of diagnoses, initiate therapeutic discoveries, and lay the ...
Heidi Wallis, Sangeetha Iyer, Emily K. Reinhardt   +2 more
doaj   +3 more sources

Heterozygous females from a rat model for creatine transporter deficiency reveal altered behavioral response to stressors, normal body weight and slight metabolic changes [PDF]

Frontiers in Neuroscience
Creatine (Cr) is an organic acid essential for recycling ATP, important in tissues with high energy demand such as muscle or brain. Cr is synthesized in a 2-step pathway by the enzymes AGAT and GAMT, and transported by SLC6A8 (also called CrT).
Lara Duran-Trio, Marc Lanzillo, Dunja Simicic, Clothilde Roux-Petronelli, Stephen J. Bruce, Carmen Sandi, Cristina Cudalbu, Cristina Cudalbu, Olivier Braissant   +8 more
doaj   +3 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, Rania Harati, Clémence Disdier, Orsolya Mozner, Romane Gaston-Breton, Auriane Maïza, Narciso Costa, Anne-Cécile Guyot, Balazs Sarkadi, Agota Apati, Matthew R Skelton, Lucie Madrange, Frank Yates, Jean Armengaud, Rifat Hamoudi, Aloïse Mabondzo   +15 more
doaj   +3 more sources