Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

BACKGROUND: Coenzyme Q10 (CoQ10 or ubiquinone) deficiency can be due either to mutations in genes involved in CoQ10 biosynthesis pathway, or to mutations in genes unrelated to CoQ10 biosynthesis. CoQ10 defect is the only oxidative phosphorylation disorder that can be clinically improved after oral C...

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Autores principales: Fragaki,Konstantina, Chaussenot,Annabelle, Benoist,Jean-François, Ait-El-Mkadem,Samira, Bannwarth,Sylvie, Rouzier,Cécile, Cochaud,Charlotte, Paquis-Flucklinger,Véronique
Lenguaje:English
Publicado: Sociedad de Biología de Chile 2016
Materias:
Mitochondrial disease
CoQ10 deficiency
Respiratory chain
Spectrophotometry
LC-MSMS
Acceso en línea:http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602016000100004
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http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602016000100004

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