Article
Mitochondrial functions and rare diseases.
Molecular aspects of medicine - 1 Feb 2020
Dard L, Blanchard W, Hubert C, Lacombe D, Rossignol R
Abstract excerpt
Mitochondria are dynamic cellular organelles responsible for a large variety of biochemical processes as energy transduction, REDOX signaling, the biosynthesis of hormones and vitamins, inflammation or cell death execution. Cell biology studies established that 1158 human genes encode proteins localized to mitochondria, as registered in MITOCARTA. Clinical studies showed that a large number of these mitochondrial...
Topics
- Animals
- Disease Progression
- Gene Expression Regulation
- Genetic Predisposition to Disease
- Humans
- Mitochondria
- Mitochondrial Proteins
- Mutation
- Oxidation-Reduction
- Rare Diseases