{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T11:12:09Z","timestamp":1790248329741,"version":"4.1.0"},"reference-count":129,"publisher":"Portland Press Ltd.","issue":"5","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,10,19]]},"abstract":"<jats:p>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 import machinery can cause mitochondrial disease, a heterogenous and often severe collection of disorders associated with energy generation defects and a multisystem presentation often affecting the cardiovascular and nervous systems. Here, we review our current understanding of mitochondrial protein import systems in human cells and the molecular basis of mitochondrial diseases caused by defects in these pathways.<\/jats:p>","DOI":"10.1042\/bst20180239","type":"journal-article","created":{"date-parts":[[2018,10,4]],"date-time":"2018-10-04T06:14:35Z","timestamp":1538633675000},"page":"1225-1238","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Mitochondrial diseases caused by dysfunctional mitochondrial protein import"],"prefix":"10.1042","volume":"46","author":[{"given":"Thomas Daniel","family":"Jackson","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3010, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine Sarah","family":"Palmer","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3010, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Stojanovski","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria 3010, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2018,10,4]]},"reference":[{"key":"2021111818123329700_BST-2018-0239CC1","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1126\/science.1127895","article-title":"Evolution of the molecular machines for protein import into mitochondria","volume":"313","author":"Dolezal","year":"2006","journal-title":"Science"},{"key":"2021111818123329700_BST-2018-0239CC2","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1016\/j.tcb.2014.08.005","article-title":"Mitochondria: from cell death executioners to regulators of cell differentiation","volume":"24","author":"Kasahara","year":"2014","journal-title":"Trends Cell Biol."},{"key":"2021111818123329700_BST-2018-0239CC3","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1016\/j.cell.2012.02.035","article-title":"Mitochondria: in sickness and in health","volume":"148","author":"Nunnari","year":"2012","journal-title":"Cell"},{"key":"2021111818123329700_BST-2018-0239CC4","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R117.809194","article-title":"Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology","author":"Frazier","year":"2017","journal-title":"J. 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