Article
Respiratory Chain Complex Disorganization Impairs Mitochondrial and Cellular Integrity: Phenotypic Variation in Cytochrome c Oxidase Deficiency.
The American journal of pathology - 1 Jan 2017
Hatakeyama Hideyuki, Goto Yu-Ichi
Abstract excerpt
The relationships between the molecular abnormalities in mitochondrial respiratory chain complexes and their negative contributions to mitochondrial and cellular functions have been proved to be essential for better understandings in mitochondrial medicine. Herein, we established the method to identify disease phenotypic differences among patients with muscle histopathological cytochrome c oxidase (COX)...
Topics
- Cytochrome-c Oxidase Deficiency
- Electron Transport Complex IV
- Holoenzymes
- Homeostasis
- Humans
- Mitochondria
- Models, Biological
- Muscle Development
- Muscle, Skeletal
- Mutation
- Phenotype
- RNA, Messenger
