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

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. We hypothesized that deficient creatine uptake in CTD cerebral cells impact methylation balance l...

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Autori principali: Léa Broca-Brisson, Clémence Disdier, Rania Harati, Rifat Hamoudi, Aloïse Mabondzo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2024-04-01
Serie:Frontiers in Neuroscience
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Accesso online:https://www.frontiersin.org/articles/10.3389/fnins.2024.1362497/full
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