Results 11 to 20 of about 26,802 (257)

Transport and inhibition mechanisms of human creatine transporter [PDF]

Cell Discovery
Jiahui Chen, Yimin Zhang, Nanhao Chen, Jingpeng Ge, Jie Yu   +4 more
doaj   +4 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, Sevasti Zervou, Kiterie M E Faller, Debra J McAndrew, Jurgen E Schneider, Stefan Neubauer, Craig A Lygate   +6 more
doaj   +5 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   +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

[18F]FDG-PET and [18F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation [PDF]

Scientific Reports
Pathogenic variants in the creatine transporter gene SLC6A8, reported to represent 2% of all intellectual disabilities in males, result in a spectrum of behavioral abnormalities including developmental delay, intellectual disability, and deficit in ...
Isabel Day, Mikayla Tamboline, Lindsay Lueptow, Irina Zhuravka, Taryn Diep, Ilona Tkachyova, Shili Xu, Andreas Schulze, Gerald S. Lipshutz   +8 more
doaj   +2 more sources

Creatine transporter (SLC6A8) knockout mice exhibit reduced muscle performance, disrupted mitochondrial Ca2+ homeostasis, and severe muscle atrophy [PDF]

Cell Death and Disease
Creatine (Cr) is essential for cellular energy homeostasis, particularly in muscle and brain tissues. Creatine Transporter Deficiency (CTD), an X-linked disorder caused by mutations in the SLC6A8 gene, disrupts Cr transport, leading to intellectual ...
Irene Pertici, Donato D’Angelo, Denis Vecellio Reane, Massimo Reconditi, Ilaria Morotti, Elena Putignano, Debora Napoli, Giorgia Rastelli, Gaia Gherardi, Agnese De Mario, Rosario Rizzuto, Simona Boncompagni, Laura Baroncelli, Marco Linari, Marco Caremani, Anna Raffaello   +15 more
doaj   +2 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   +2 more sources

Creatine transporter deficiency impairs stress adaptation and brain energetics homeostasis [PDF]

JCI Insight, 2021
The creatine transporter (CrT) maintains brain creatine (Cr) levels, but the effects of its deficiency on energetics adaptation under stress remain unclear.
Hong-Ru Chen, Xiaohui Zhang-Brotzge, Yury M. Morozov, Yuancheng Li, Siming Wang, Helen Heju Zhang, Irena S. Kuan, Elizabeth M. Fugate, Hui Mao, Yu-Yo Sun, Pasko Rakic, Diana M. Lindquist, Ton DeGrauw, Chia-Yi Kuan   +13 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

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