AarF-Domain-Kinase 3

Iiizumi M et al. (2002) Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex.

Lamperti C et al. (2003) Cerebellar ataxia and coenzyme Q10 deficiency.

Auré K et al. (2004) Progression despite replacement of a myopathic form of coenzyme Q10 defect.

Mollet J et al. (2008) CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

Lagier-Tourenne C et al. (2008) ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.

OMIM.ORG article

Orphanet article

NCBI article