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
- metabolic syndrome
- genome wide
- adipose tissue
- stem cells
- multiple sclerosis
- skeletal muscle
- early onset
- drug induced
- machine learning
- resting state
- bone marrow
- replacement therapy
- white matter
- big data
- electronic health record
- cerebral ischemia
- congenital heart disease
- hearing loss