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Journal of Inherited Metabolic Disease

, Volume 29, Issue 2–3, pp 345–346 | Cite as

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
SSIEM SYMPOSIUM 2005

Summary

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.

Keywords

Creatine SLC6A8 Gene Creatine Transporter Creatine Content Creatine Uptake 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

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Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • Efraim H. Rosenberg
    • 1
  • Cristina Martínez Muñoz
    • 1
  • Ton J. Degrauw
    • 2
  • Cor nelis Jakobs
    • 1
  • Gajja S. Salomons
    • 1
  1. 1.Department of Clinical Chemistry, Metabolic UnitVU University Medical CenterAmsterdamThe Netherlands
  2. 2.Cincinnati Children's Hospital Medical CenterCincinnatiUSA

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