Article
RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.
Human mutation - 1 Sept 2014
Nota Benjamin, Ndika Joseph D T, van de Kamp Jiddeke M, Kanhai Warsha A, van Dooren Silvy J M, van de Wiel Mark A, Pals Gerard, Salomons Gajja S
Abstract excerpt
Creatine transporter (SLC6A8) deficiency is the most common cause of cerebral creatine syndromes, and is characterized by depletion of creatine in the brain. Manifestations of this X-linked disorder include intellectual disability, speech/language impairment, behavior abnormalities, and seizures. At the moment, no effective treatment is available. In order to investigate the molecular pathophysiology of this...
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