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

Authors
  • Rosenberg, Efraim H
  • Muñoz, Cristina Martínez
  • Degrauw, Ton J
  • Jakobs, Cor nelis
  • Salomons, Gajja S
Type
Published Article
Journal
Journal of Inherited Metabolic Disease
Publisher
Springer-Verlag
Publication Date
Jan 01, 2006
Volume
29
Issue
2-3
Pages
345–346
Identifiers
PMID: 16763899
Source
Medline
License
Unknown

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.

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