Title :

Functional assessment of creatine transporter in control and x-linked slc6a8-deficient fibroblasts

Author(s) :

Joncquel-Chevalier Curt, Marie [Auteur]
Bout, Marie-Adelaide [Auteur]
Fontaine, Monique [Auteur]
Kim, Isabelle [Auteur]
Huet, Guillemette [Auteur]
Bekri, Soumeya [Auteur]
Morin, Gilles [Auteur]
Moortgat, Stephanie [Auteur]
Moerman, Alexandre [Auteur]
Cuisset, Jean-Marie [Auteur]
Cheillan, David [Auteur]
Vamecq, Joseph [Auteur]

Journal title :

Molecular genetics and metabolism

Abbreviated title :

Mol. Genet. Metab.

Publication date :

2018-02-16

ISSN :

1096-7206

Keyword(s) :

Female carriers
UPLC/tandem MS
D-3-creatine
Creatine
Male hemizygotes
X-linked disorder
Guanidino metabolites
SLC6A8 gene
Creatine transporter

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Creatine transporter is currently the focus of renewed interest with emerging roles in brain neurotransmission and physiology, and the bioenergetics of cancer metastases. We here report on amendments of a standard creatine ...
Show more >Creatine transporter is currently the focus of renewed interest with emerging roles in brain neurotransmission and physiology, and the bioenergetics of cancer metastases. We here report on amendments of a standard creatine uptake assay which might help clinical chemistry laboratories to extend their current range of measurements of creatine and metabolites in body fluids to functional enzyme explorations. In this respect, short incubation times and the use of a stable-isotope-labeled substrate (D3Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Université de Lille

Collections :

• Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Submission date :

2021-09-02T07:01:45Z