Article
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Journal of inherited metabolic disease - 1 Jan 2015
Desbats Maria Andrea, Lunardi Giada, Doimo Mara, Trevisson Eva, Salviati Leonardo
Abstract excerpt
Coenzyme Q(10) is a remarkable lipid involved in many cellular processes such as energy production through the mitochondrial respiratory chain (RC), beta-oxidation of fatty acids, and pyrimidine biosynthesis, but it is also one of the main cellular antioxidants. Its biosynthesis is still incompletely characterized and requires at least 15 genes. Mutations in eight of them (PDSS1, PDSS2, COQ2, COQ4, COQ6, ADCK3,...
Topics
- Adenosine Triphosphate
- Animals
- Ataxia
- Central Nervous System Diseases
- Disease Models, Animal
- Electron Transport
- Humans
- Mice
- Mitochondria
- Mitochondrial Diseases
- Muscle Weakness
- Nephrotic Syndrome
- Oxidative Stress
- Phenotype
- Ubiquinone