Article
The genetics and pathology of mitochondrial disease.
The Journal of pathology - 1 Jan 2017
Alston Charlotte L, Rocha Mariana C, Lax Nichola Z, Turnbull Doug M, Taylor Robert W
Abstract excerpt
Mitochondria are double-membrane-bound organelles that are present in all nucleated eukaryotic cells and are responsible for the production of cellular energy in the form of ATP. Mitochondrial function is under dual genetic control - the 16.6-kb mitochondrial genome, with only 37 genes, and the nuclear genome, which encodes the remaining ∼1300 proteins of the mitoproteome. Mitochondrial dysfunction can arise...
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