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  • Title: Dodecyl creatine ester therapy: from promise to reality.
    Author: Mabondzo A, van de Kamp J, Mercimek-Andrews S.
    Journal: Cell Mol Life Sci; 2024 Apr 17; 81(1):186. PubMed ID: 38632116.
    Abstract:
    Pathogenic 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. There are no treatments to improve neurodevelopmental outcomes for creatine transporter deficiency (CTD). In this spotlight, we summarize recent advances in innovative molecules to treat CTD, with a focus on dodecyl creatine ester, the most promising drug candidate.
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