Literature DB >> 16763899

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

Efraim H Rosenberg1, Cristina Martínez Muñoz, Ton J Degrauw, Cor nelis Jakobs, Gajja S Salomons.   

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.

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Year:  2006        PMID： 16763899     DOI： 10.1007/s10545-006-0271-6

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  7 in total

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

Authors:  T Kleefstra; E H Rosenberg; G S Salomons; H Stroink; H van Bokhoven; B C J Hamel; B B A de Vries
Journal:  Clin Genet       Date:  2005-10       Impact factor: 4.438

2.  X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

Authors:  G S Salomons; S J van Dooren; N M Verhoeven; K M Cecil; W S Ball; T J Degrauw; C Jakobs
Journal:  Am J Hum Genet       Date:  2001-04-20       Impact factor: 11.025

3.  Cloning, pharmacological characterization, and genomic localization of the human creatine transporter.

Authors:  S R Nash; B Giros; S F Kingsmore; J M Rochelle; S T Suter; P Gregor; M F Seldin; M G Caron
Journal:  Recept Channels       Date:  1994

4.  Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Authors:  G M S Mancini; C E Catsman-Berrevoets; I F M de Coo; F K Aarsen; J H J Kamphoven; J G Huijmans; M Duran; M S van der Knaap; C Jakobs; G S Salomons
Journal:  Am J Med Genet A       Date:  2005-01-30       Impact factor: 2.802

5.  Congenital creatine transporter deficiency.

Authors:  T J deGrauw; G S Salomons; K M Cecil; G Chuck; A Newmeyer; M B Schapiro; C Jakobs
Journal:  Neuropediatrics       Date:  2002-10       Impact factor: 1.947

Review 6.  X-linked creatine transporter defect: an overview.

Authors:  G S Salomons; S J M van Dooren; N M Verhoeven; D Marsden; C Schwartz; K M Cecil; T J DeGrauw; C Jakobs
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

7.  High prevalence of SLC6A8 deficiency in X-linked mental retardation.

Authors:  Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Rose S deGrauw; Helger G Yntema; Nadia Bahi; Claude Moraine; Hans-Hilger Ropers; Jean-Pierre Fryns; Ton J deGrauw; Cornelis Jakobs; Gajja S Salomons
Journal:  Am J Hum Genet       Date:  2004-05-20       Impact factor: 11.025
  7 in total
  2 in total

1.  Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiency.

Authors:  Matthew R Skelton; Tori L Schaefer; Devon L Graham; Ton J Degrauw; Joseph F Clark; Michael T Williams; Charles V Vorhees
Journal:  PLoS One       Date:  2011-01-13       Impact factor: 3.240

2.  Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts.

Authors:  Kirill Gorshkov; Amy Q Wang; Wei Sun; Ethan Fisher; Marta Frigeni; Marc Singleton; Natasha Thorne; Bradley Class; Wenwei Huang; Nicola Longo; Minh-Ha T Do; Elizabeth A Ottinger; Xin Xu; Wei Zheng
Journal:  Pharmacol Res Perspect       Date:  2019-12
  2 in total

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