Results 31 to 40 of about 1,836 (142)

SLC6A8-mediated intracellular creatine accumulation enhances hypoxic breast cancer cell survival via ameliorating oxidative stress

Journal of Experimental & Clinical Cancer Research, 2021
Background Triple-negative breast cancer (TNBC) is the most aggressive subtype of breast cancer, with poor prognosis and limited treatment options. Hypoxia is a key hallmark of TNBC.
Qiao Li, Manran Liu, Yan Sun, Ting Jin, Pengpeng Zhu, Xueying Wan, Yixuan Hou, Gang Tu   +7 more
doaj   +1 more source

Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency

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   +1 more source

Suggestion of creatine as a new neurotransmitter by approaches ranging from chemical analysis and biochemistry to electrophysiology

eLife, 2023
The discovery of a new neurotransmitter, especially one in the central nervous system, is both important and difficult. We have been searching for new neurotransmitters for 12 y.
Xiling Bian, Jiemin Zhu, Xiaobo Jia, Wenjun Liang, Sihan Yu, Zhiqiang Li, Wenxia Zhang, Yi Rao   +7 more
doaj   +1 more source

Membrane potential based assay for SLC6A8 using HEK-293 JumpIN SLC6A8 OE cells

, 2022
FLIPR® membrane potential dye measures changes of charges across the cell membrane, upon activation of SLC6A8. The assay allows the detection of ion channel and transporter modulation by increasing or decreasing the fluorescent signal as cellular ...
Lia Scarabottolo, Loredana Redaelli, Francesca Sassone   +2 more
core   +1 more source

Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency

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   +1 more source

Novel Corrector for Variants of SLC6A8: A Therapeutic Opportunity for Creatine Transporter Deficiency. [PDF]

ACS Chem Biol
Mutations in creatine transporter SLC6A8 cause creatine transporter deficiency (CTD), which is responsible for 2% of all cases of X-linked intellectual disability. CTD has no current treatments and has a high unmet medical need.
Gechijian LN, Muncipinto G, Rettenmaier TJ, Labenski MT, Rusu V, Rosskamp L, Conway L, van Kalken D, Gross L, Iantosca G, Crotty W, Mathis R, Park H, Rabin B, Westgate C, Lyons M, Deshusses C, Brandon N, Brown DG, Blanchette HS, Pullen N, Jones LH, Barrish JC.   +22 more
europepmc   +2 more sources

A new rat model of creatine transporter deficiency reveals behavioral disorder and altered brain metabolism

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   +1 more source

Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency

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   +1 more source

Dietary guanidinoacetic acid increases the longissimus dorsi muscle depth of finishing pigs without requiring a higher standardised ileal digestible methionine + cysteine concentration

Italian Journal of Animal Science, 2022
The objective of this study was to evaluate the interaction of guanidinoacetic acid (GAA) with standardised ileal digestible methionine + cysteine (SID Met + Cys) levels in finishing pig diets on the performance, carcase characteristics, pork quality ...
Natália Yoko Sitanaka, Alice Eiko Murakami, Lucas Antônio Costa Esteves, Paula Carina de Oliveira, Eliane Gasparino, Angélica de Souza Khatlab, Paulo Cesar Pozza   +6 more
doaj   +1 more source

Diagnosis and Treatment of X-Linked Creatine Transporter Deficiency: Case Report and Literature Review

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   +1 more source