Back to Search Start Over

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme [Q.sub.10] deficiency

Authors :
Lagier-Tourenne, Clotilde
Tazir, Meriem
Lopez, Luis Carlos
Quinzii, Catarina M.
Assoum, Mirna
Drouot, Nathalie
Koenig, Michel
Busso, Cleverson
Makri, Samira
Ali-Pacha, Lamia
Benhassine, Traki
Hirano, Michio
Anheim, Mathieu
Lynch, David R.
Thibault, Christelle
Plewniak, Frederic
Bianchetti, Laurent
Tranchant, Christine
Poch, Olivier
DiMauro, Salvatore
Mandel, Jean-Louis
Barros, Mario H.
Source :
American Journal of Human Genetics. March, 2008, Vol. 82 Issue 3, p661, 12 p.
Publication Year :
2008

Abstract

The significance and the role of the ancestral kinase, aarF-domain-containing kinase 3 gene (ADCK3) in the ubiquinone synthesis are discussed. ADCK3 mutations are found to regulate the production of ATP, hence leading to the deficiency of coenzyme [Q.sub.10].

Details

Language :
English
ISSN :
00029297
Volume :
82
Issue :
3
Database :
Gale General OneFile
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
edsgcl.177044273