Results 11 to 20 of about 6,531 (222)

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, Giulia Sagona, Elena Putignano   +2 more
exaly   +9 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.
Kenea C Udobi, Narciso Costa, Alain Pruvost   +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   +3 more sources

A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism [PDF]

Frontiers in Physiology, 2018
Creatine serves as fast energy buffer in organs of high-energy demand such as brain and skeletal muscle. L-Arginine:glycine amidinotransferase (AGAT) and guanidinoacetate N-methyltransferase are responsible for endogenous creatine synthesis.
Malte Stockebrand, Malte Stockebrand, Ali Sasani, Ali Sasani, Devashish Das, Sönke Hornig, Irm Hermans-Borgmeyer, Hannah A. Lake, Hannah A. Lake, Dirk Isbrandt, Craig A. Lygate, Craig A. Lygate, Arend Heerschap, Axel Neu, Chi-Un Choe   +14 more
doaj   +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.
Ali El-Kasaby, Michael Freissmuth, Sonja Sucic   +2 more
exaly   +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   +3 more sources

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency [PDF]

Orphanet Journal of Rare Diseases
Background Creatine transporter (CTD) and guanidinoacetate methyltransferase (GAMT) deficiencies are rare inborn errors of creatine metabolism, resulting in cerebral creatine deficiency.
Zahra Nasseri Moghaddam, Emily K. Reinhardt, Audrey Thurm, Beth K. Potter, Maureen Smith, Celeste Graham, Beth H. Tiller, Steven A. Baker, Deborah A. Bilder, Regina Bogar, Jacobus Britz, Rachel Cafferty, Daniel P. Coller, Ton J. DeGrauw, Vicky Hall, Gerald S. Lipshutz, Nicola Longo, Saadet Mercimek-Andrews, Judith S. Miller, Marzia Pasquali, Gajja S. Salomons, Andreas Schulze, Celine P. Wheaton, Kayla F. Williams, Sarah P. Young, Jasmine Li, Sofia Balog, Theresa Selucky, Sylvia Stöckler-Ipsiroglu, Heidi Wallis   +29 more
doaj   +7 more sources

A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report [PDF]

BMC Medical Genetics, 2018
Background X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems.
Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo, Jiansheng Xie   +5 more
doaj   +3 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   +3 more sources

A novel mouse model of creatine transporter deficiency [v1; ref status: indexed, http://f1000r.es/4f8] [PDF]

F1000Research, 2014
Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement  and behavioral ...
Laura Baroncelli, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Cornelius Gross, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso   +9 more
doaj   +10 more sources