- Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.
Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.
Journal of inherited metabolic disease (2006-06-10)
Efraim H Rosenberg, Cristina Martínez Muñoz, Ton J Degrauw, Cor nelis Jakobs, Gajja S Salomons
PMID16763899
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.
MATERIALS