Results 1 to 10 of about 2,420 (113)

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   +11 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   +7 more sources

Intranasal delivery of dodecyl creatine ester alleviates motor deficits and increases dopamine levels in a 6-OHDA rat model of parkinsonism [PDF]

Frontiers in Aging Neuroscience
IntroductionCreatine has been recognized not only as an energy buffer but also for its antioxidant, antiapoptotic, and anti-excitotoxic properties, making it of interest as a neuroprotective agent. Oral creatine monohydrate supplementation is ineffective
Clémence Disdier, Clara Lhotellier, Stéphanie Wagner, Emile Andriambeloson, Frédéric Théodoro, Alain Pruvost, Thomas Joudinaud, Henri Bénech, Aloïse Mabondzo, Aloïse Mabondzo, Aloïse Mabondzo   +10 more
doaj   +3 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

Dodecyl creatine ester therapy: from promise to reality. [PDF]

Cell Mol Life Sci
AbstractPathogenic variants in SLC6A8, the gene which encodes creatine transporter SLC6A8, prevent creatine uptake in the brain and result in a variable degree of intellectual disability, behavioral disorders (e.g., autism spectrum disorder), epilepsy, and severe speech and language delay.
Mabondzo A, van de Kamp J, Mercimek-Andrews S.   +2 more
europepmc   +3 more sources

New Insights into Drug Development via the Nose-to-Brain Pathway: Exemplification Through Dodecyl Creatine Ester for Neuronal Disorders [PDF]

Pharmaceutics
Brain disorders remain a major global health challenge, highlighting the urgent need for innovative therapeutic strategies and efficient drug-delivery approaches.
Henri Benech, Victoria Flament, Clara Lhotellier, Camille Roucairol, Thomas Joudinaud   +4 more
doaj   +2 more sources

Impaired brain glucose metabolism as a biomarker for evaluation of dodecyl creatine ester in creatine transporter deficiency: Insights from patient brain-derived organoids and in vivo [18F]FDG PET imaging in a mouse model

Neurobiology of Disease
Creatine transporter deficiency (CTD) is an inborn error of creatine (Cr) metabolism in which Cr is not properly distributed to the brain due to a mutation in the Cr transporter (CrT) SLC6A8 gene.
Clémence Disdier, Amélie Soyer, Léa Broca-Brisson, Sébastien Goutal, Anne-Cécile Guyot, Nora Ziani, Louise Breuil, Alexandra Winkeler, Gaëlle Hugon, Thomas Joudinaud, Henri Bénech, Jean Armengaud, Matthew R. Skelton, Rania Harati, Rifat A. Hamoudi, Nicolas Tournier, Aloïse Mabondzo   +16 more
doaj   +3 more sources

Dodecyl Creatine Ester and Lipid Nanocapsule: A Double Strategy for the Treatment of Creatine Transporter Deficiency [PDF]

Nanomedicine, 2014
Creatine transporter (CT) deficiency is characterized by mutations in the gene encoding CT, leading to impaired transport of creatine at the cell membrane. Patients with this disease would thus benefit from replenishment of creatine inside the brain cells.We report a therapeutic strategy based on the use of dodecyl creatine ester incorporated into ...
Trotier-Faurion, Alexandra, Passirani-Malleret, Catherine, Bejaud, Jérôme, Dézard, Sophie, Valayannopoulos, Vassili, Taran, Fréderic, de Lonlay, Pascale, Benoit, Jean-Pierre, Mabondzo, Aloïse   +8 more
openaire   +4 more sources

Editorial: Advances in brain disorders: from mechanisms to therapeutic targets. [PDF]

Front Mol Neurosci, 2023
Bono F, Abate G, Bonini SA, Sisalli MJ, Bellucci A.   +4 more
europepmc   +1 more source

CARD9 deficiency promotes pancreatic cancer growth by blocking dendritic cell maturation via SLC6A8-mediated creatine transport. [PDF]

Oncoimmunology, 2023
Tian C, Yuan H, Lu Y, He H, Li Q, Li S, Yang J, Wang M, Xu R, Liu Q, Xiang M.   +10 more
europepmc   +1 more source