Journal article

Mitochondrial diseases caused by dysfunctional mitochondrial protein import

Thomas Daniel Jackson, Catherine Sarah Palmer, Diana Stojanovski

BIOCHEMICAL SOCIETY TRANSACTIONS | PORTLAND PRESS LTD | Published : 2018

Abstract

Mitochondria are essential organelles which perform complex and varied functions within eukaryotic cells. Maintenance of mitochondrial health and functionality is thus a key cellular priority and relies on the organelle's extensive proteome. The mitochondrial proteome is largely encoded by nuclear genes, and mitochondrial proteins must be sorted to the correct mitochondrial sub-compartment post-translationally. This essential process is carried out by multimeric and dynamic translocation and sorting machineries, which can be found in all four mitochondrial compartments. Interestingly, advances in the diagnosis of genetic disease have revealed that mutations in various components of the human..

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