Rosenberg Efraim H, Muñoz Cristina Martínez, Degrauw Ton J, Jakobs Cor nelis, Salomons Gajja S
Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1118, 1081 HV, Amsterdam, The Netherlands.
J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):345-6. doi: 10.1007/s10545-006-0271-6.
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.
在本报告的研究中，我们证明SLC6A8基因的突变是导致SLC6A8缺乏症（一种脑肌酸缺乏综合征，CCDS）的原因，因为野生型SLC6A8开放阅读框（ORF）的过表达可恢复SLC6A8缺陷型成纤维细胞中的肌酸摄取情况。
