Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.
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.
Rosenberg
Efraim H
EH
Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands.
Muñoz
Cristina Martínez
CM
Degrauw
Ton J
TJ
Jakobs
Cor nelis
Cn
Salomons
Gajja S
GS
D020157:Amino Acid Transport Disorders, Inborn / Q000235:genetics / Q000378:metabolism*; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics / Q000378:metabolism*; D002478:Cells, Cultured; D003401:Creatine / Q000378:metabolism*; D005347:Fibroblasts / Q000187:drug effects / Q000378:metabolism*; D006146:Guanidines / Q000494:pharmacology; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000037:antagonists & inhibitors / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*; D016366:Open Reading Frames / Q000235:genetics; D050480:Plasma Membrane Neurotransmitter Transport Proteins / Q000037:antagonists & inhibitors / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*; D011422:Propionates / Q000494:pharmacology; D014162:Transfection
D006146:Guanidines; D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; D011422:Propionates; C094770:SLC6A8 protein, human; D003401:Creatine; C005775:guanidinopropionic acid