Matthew R. Skelton

This study uses human brain organoids to show that restoring SLC6A8 function in CTD patients normalizes protein expression and creatine uptake, suggesting potential therapeutic targets for CTD.

The paper identifies 14 biomarkers associated with cognitive improvement in a Slc6a8 knockout mouse model treated with DCE, linking them to proteins involved in CTD pathogenesis.

This study shows that Slc6a8 knockout mice exhibit an inattentive-like phenotype in the 5CSRTT without increased impulsivity, expanding the known phenotype of creatine transporter deficiency.

This study shows that deleting the creatine transporter in dopaminergic neurons causes hyperactivity in mice without affecting motor function.

This study shows that deleting the creatine transporter gene in neonatal mice causes cognitive deficits, but not in adult mice, indicating Cr's necessity during brain development.

This study creates brain-specific Slc6a8 knockout mice and shows that reduced cerebral creatine causes cognitive deficits without affecting swim speed, unlike ubiquitous knockout mice.