Dodecyl creatine ester therapy: from promise to reality.
Cell Mol Life Sci
; 81(1): 186, 2024 Apr 17.
Article
em En
| MEDLINE
| ID: mdl-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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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Creatina
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Encefalopatias Metabólicas Congênitas
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Deficiência Intelectual Ligada ao Cromossomo X
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Proteínas da Membrana Plasmática de Transporte de Neurotransmissores
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Transtorno do Espectro Autista
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Deficiência Intelectual
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article