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.

Link to article: https://onlinelibrary.wiley.com/doi/10.1007/s10545-006-0271-6

PubMed: https://pubmed.ncbi.nlm.nih.gov/16763899/

Authors: Efraim H. Rosenberg, Cristina Martínez Muñoz, Ton J. Degrauw, Cornelis Jakobs, Gajja S. Salomons

Key Terms: CTD, Mutation Study, In vitro, Basic Science