Overexpression of wild‐type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8‐deficient fibroblasts

Abstract

In the study reported, we prove that mutations in the SLC6A8 gene are responsible for SLC6A8 deficiency, a cerebral creatine deficiency syndrome (CCDS), since overexpression of the wild-type SLC6A8 open reading frame (ORF) restores the creatine uptake profile in SLC6A8-deficient fibroblasts.