Results 21 to 30 of about 13,220 (172)

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   +2 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   +2 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   +2 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   +2 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   +2 more sources

Epigenetic alterations in creatine transporter deficiency: a new marker for dodecyl creatine ester therapeutic efficacy monitoring [PDF]

Frontiers in Neuroscience
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.
Léa Broca-Brisson, Clémence Disdier, Rania Harati, Rania Harati, Rifat Hamoudi, Rifat Hamoudi, Rifat Hamoudi, Rifat Hamoudi, Rifat Hamoudi, Rifat Hamoudi, Aloïse Mabondzo   +10 more
doaj   +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

Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency. [PDF]

Nanomedicine (Lond), 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.
Ullio-Gamboa G, Udobi KC, Dezard S, Perna MK, Miles KN, Costa N, Taran F, Pruvost A, Benoit JP, Skelton MR, Lonlay P, Mabondzo A.   +11 more
europepmc   +6 more sources

Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts [PDF]

Scientific Reports
Creatine transporter deficiency (CTD) caused by mutations in SLC6A8 encoding the creatine transporter (CRT), leads to cerebral creatine deficiency syndromes; however, the cellular impact of CRT loss remains unclear.
Shingo Ito, Tatsuki Uemura, Ayaka Miyano, Hiroko Shimbo, Takeshi Masuda, Tomohide Goto, Hitoshi Osaka, Takahito Wada, Sumio Ohtsuki   +8 more
doaj   +2 more sources

Corrigendum to “Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency” [PDF]

Molecular Genetics and Metabolism Reports, 2023
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter   +14 more
doaj   +2 more sources