Dodecyl creatine ester therapy: from promise to reality.
Biomarkers
Blood–brain barrier
Clinical trial
Cognitive functions
Creatine transporter deficiency
Nose-to-brain drug delivery
Proton MRS
Journal
Cellular and molecular life sciences : CMLS
ISSN: 1420-9071
Titre abrégé: Cell Mol Life Sci
Pays: Switzerland
ID NLM: 9705402
Informations de publication
Date de publication:
17 Apr 2024
17 Apr 2024
Historique:
received:
18
01
2024
accepted:
05
03
2024
revised:
26
02
2024
medline:
19
4
2024
pubmed:
18
4
2024
entrez:
17
4
2024
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 38632116
doi: 10.1007/s00018-024-05218-y
pii: 10.1007/s00018-024-05218-y
pmc: PMC11024018
doi:
Substances chimiques
Creatine
MU72812GK0
Plasma Membrane Neurotransmitter Transport Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
186Informations de copyright
© 2024. The Author(s).
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