title: Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.
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.
authors.affiliation: Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands.
authors.forename: Efraim H
authors.initials: EH
authors.lastname: Rosenberg
authors.forename: Cristina Martínez
authors.initials: CM
authors.lastname: Muñoz
authors.forename: Ton J
authors.initials: TJ
authors.lastname: Degrauw
authors.forename: Cor nelis
authors.initials: Cn
authors.lastname: Jakobs
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
mesh_terms: 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
chemical_list: D006146:Guanidines; D009419:Nerve Tissue Proteins; D050480:Plasma Membrane Neurotransmitter Transport Proteins; D011422:Propionates; C094770:SLC6A8 protein, human; D003401:Creatine; C005775:guanidinopropionic acid