CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

  title={CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.},
  author={Julie Mollet and Agn{\'e}s Delahodde and Val{\'e}rie Serre and Dominique Chr{\'e}tien and Dimitri D Schlemmer and Anne Lombes and Nathalie Boddaert and Isabelle Desguerre and Pascale de Lonlay and H{\'e}l{\`e}ne Ogier de Baulny and Arnold Munnich and Agn{\`e}s R{\"o}tig},
  journal={American journal of human genetics},
  volume={82 3},
Coenzyme Q(10) (CoQ(10)) plays a pivotal role in oxidative phosphorylation (OXPHOS) in that it distributes electrons between the various dehydrogenases and the cytochrome segments of the respiratory chain. Primary coenzyme Q(10) deficiency represents a clinically heterogeneous condition suggestive of genetic heterogeneity, and several disease genes have been previously identified. The CABC1 gene, also called COQ8 or ADCK3, is the human homolog of the yeast ABC1/COQ8 gene, one of the numerous… CONTINUE READING
Highly Influential
This paper has highly influenced 14 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS


Publications citing this paper.
Showing 1-10 of 97 extracted citations

Coenzyme Q and mitochondrial disease.

Developmental disabilities research reviews • 2010
View 8 Excerpts
Highly Influenced

EFNS guidelines on the molecular diagnosis of mitochondrial disorders.

European journal of neurology • 2009
View 5 Excerpts
Highly Influenced

Similar Papers

Loading similar papers…