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

Efraim H Rosenberg, Cristina Martínez Muñoz, Ton J Degrauw, Cor nelis Jakobs, Gajja S Salomons

Index: J. Inherit. Metab. Dis. 29(2-3) , 345-6, (2006)

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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.