Literature DB >> 7774949

Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD.

P Gregor1, S R Nash, M G Caron, M F Seldin, S T Warren.   

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Year:  1995        PMID: 7774949     DOI: 10.1016/0888-7543(95)80155-f

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


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  16 in total

1.  Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.

Authors:  Ofir T Betsalel; Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul-Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons
Journal:  Eur J Hum Genet       Date:  2010-08-18       Impact factor: 4.246

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.  Creatine transporter deficiency leads to increased whole body and cellular metabolism.

Authors:  Marla K Perna; Amanda N Kokenge; Keila N Miles; Kenea C Udobi; Joseph F Clark; Gail J Pyne-Geithman; Zaza Khuchua; Matthew R Skelton
Journal:  Amino Acids       Date:  2016-07-11       Impact factor: 3.520

Review 4.  Creatine and the creatine transporter: a review.

Authors:  R J Snow; R M Murphy
Journal:  Mol Cell Biochem       Date:  2001-08       Impact factor: 3.396

Review 5.  Creatine deficiency syndromes.

Authors:  Andreas Schulze
Journal:  Mol Cell Biochem       Date:  2003-02       Impact factor: 3.396

6.  Human skeletal muscle creatine transporter mRNA and protein expression in healthy, young males and females.

Authors:  Robyn M Murphy; Rebecca J Tunstall; Kate A Mehan; David Cameron-Smith; Michael J McKenna; Lawrence L Spriet; Mark Hargreaves; Rodney J Snow
Journal:  Mol Cell Biochem       Date:  2003-02       Impact factor: 3.396

7.  Creatine transporters: a reappraisal.

Authors:  Oliver Speer; Lukas J Neukomm; Robyn M Murphy; Elsa Zanolla; Uwe Schlattner; Hugues Henry; Rodney J Snow; Theo Wallimann
Journal:  Mol Cell Biochem       Date:  2004 Jan-Feb       Impact factor: 3.396

8.  Arginine supplementation in four patients with X-linked creatine transporter defect.

Authors:  C Fons; A Sempere; A Arias; A López-Sala; P Póo; M Pineda; A Mas; M A Vilaseca; G S Salomons; A Ribes; R Artuch; J Campistol
Journal:  J Inherit Metab Dis       Date:  2008-10-16       Impact factor: 4.982

Review 9.  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

10.  Creatine supplementation in health and disease. Effects of chronic creatine ingestion in vivo: down-regulation of the expression of creatine transporter isoforms in skeletal muscle.

Authors:  M L Guerrero-Ontiveros; T Wallimann
Journal:  Mol Cell Biochem       Date:  1998-07       Impact factor: 3.396

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