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

被引：6

作者：

Rosenberg, EH

Muñoz, CM

Degrauw, TJ

Jakobs, C

Salomons, GS

机构：

[1] VU Univ, Med Ctr, Metab Unit, Dept Clin Chem, NL-1081 HV Amsterdam, Netherlands

[2] Cincinnati Childrens Hosp, Med Ctr, Cincinnati, OH USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2006年 / 29卷 / 2-3期

关键词：

D O I：

10.1007/s10545-006-0271-6

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

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收藏

页码：345 / 346

页数：2

相关论文

共 7 条

[1] Congenital creatine transporter deficiency [J].

DeGrauw, TJ ;

Salomons, GS ;

Cecil, KM ;

Chuck, G ;

Newmeyer, A ;

Shapiro, MB ;

Jakobs, C .

NEUROPEDIATRICS, 2002, 33 (05) :232-238

[2] Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation [J].

Kleefstra, T ;

Rosenberg, EH ;

Salomons, GS ;

Stroink, H ;

van Bokhoven, H ;

Hamel, BCJ ;

de Vries, BBA .

CLINICAL GENETICS, 2005, 68 (04) :379-381

[3] Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated dutch families [J].

Mancini, GMS ;

Catsman-Berrevoets, CE ;

de Coo, IFM ;

Aarsen, FK ;

Kamphoven, JHJ ;

Huijmans, JG ;

Duran, M ;

van der Knaap, MS ;

Jakobs, C ;

Salomons, GS .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 132A (03) :288-295

[4]

NASH SR, 1994, RECEPTOR CHANNEL, V2, P165

[5] High prevalence of SLC6A8 deficiency in X-linked mental retardation [J].

Rosenberg, EH ;

Almeida, LS ;

Kleefstra, T ;

deGrauw, RS ;

Yntema, HG ;

Bahi, N ;

Moraine, C ;

Ropers, HH ;

Fryns, JP ;

deGrauw, TJ ;

Jakobs, C ;

Salomons, GS .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (01) :97-105

[6] X-linked creatine transporter defect: An overview [J].

Salomons, GS ;

van Dooren, SJM ;

Verhoeven, NM ;

Marsden, D ;

Schwartz, C ;

Cecil, KM ;

DeGrauw, TJ ;

Jakobs, C .

JOURNAL OF INHERITED METABOLIC DISEASE, 2003, 26 (02) :309-318

[7] X-linked creatine-transporter gene (SLC6A8) defect:: A new creatine-deficiency syndrome [J].

Salomons, GS ;

van Dooren, SJM ;

Verhoeven, NM ;

Cecil, KM ;

Ball, WS ;

Degrauw, TJ ;

Jakobs, C .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1497-1500