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

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Rosenberg EH, Munoz CM, Degrauw TJ, Jakobs Cn, Salomons GS

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

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):345-6.

PubMed ID
16763899 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Drug Targets
DrugTargetKindOrganismPharmacological ActionActions
CreatineSodium- and chloride-dependent creatine transporter 1ProteinHumans
Yes
Not AvailableDetails
PhosphocreatineSodium- and chloride-dependent creatine transporter 1ProteinHumans
Yes
Not AvailableDetails