Dodecyl creatine ester therapy: from promise to reality.
Aloïse MabondzoJiddeke van de KampSaadet Mercimek-AndrewsPublished in: Cellular and molecular life sciences : CMLS (2024)
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.
Keyphrases
- autism spectrum disorder
- intellectual disability
- attention deficit hyperactivity disorder
- copy number
- early onset
- genome wide
- emergency department
- type diabetes
- gene expression
- big data
- resting state
- white matter
- adverse drug
- dna methylation
- machine learning
- blood brain barrier
- metabolic syndrome
- transcription factor
- functional connectivity
- adipose tissue
- congenital heart disease
- subarachnoid hemorrhage
- cell therapy
- cerebral ischemia
- electronic health record