Dodecyl creatine ester therapy: from promise to reality.
Cell Mol Life Sci
; 81(1): 186, 2024 Apr 17.
Article
en 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Creatina
/
Encefalopatías Metabólicas Innatas
/
Discapacidad Intelectual Ligada al Cromosoma X
/
Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática
/
Trastorno del Espectro Autista
/
Discapacidad Intelectual
Límite:
Humans
Idioma:
En
Revista:
Cell Mol Life Sci
Asunto de la revista:
BIOLOGIA MOLECULAR
Año:
2024
Tipo del documento:
Article
País de afiliación:
Francia