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

✍ Scribed by Efraim H. Rosenberg; Cristina Martínez Muñoz; Ton J. Degrauw; Cor nelis Jakobs; Gajja S. Salomons

Book ID
106374066
Publisher
Springer
Year
2006
Tongue
English
Weight
215 KB
Volume
29
Category
Article
ISSN
0141-8955

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Creatine transporter deficiency is an X-linked mental retardation disorder caused by mutations in the creatine transporter gene (SLC6A8). So far, 20 mutations in the SLC6A8 gene have been described. We have developed a diagnostic assay to test creatine uptake in fibroblasts. Additionally, we expande