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Stimulation of the creatine transporter SLC6A8 by the protein kinase mTOR

✍ Scribed by Manzar Shojaiefard; David L. Christie; Florian Lang


Book ID
116292251
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
118 KB
Volume
341
Category
Article
ISSN
0006-291X

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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