Journal
MITOCHONDRIAL DISEASES
Volume 62, Issue 3, Pages 309-320Publisher
PORTLAND PRESS LTD
DOI: 10.1042/EBC20170102
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Funding
- MRC [MC_U105697135, MC_UU_00015/4] Funding Source: UKRI
- Medical Research Council [MC_U105697135, MC_UU_00015/4] Funding Source: Medline
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Mitochondria are the major source of ATP in the cell. Five multi-subunit complexes in the inner membrane of the organelle are involved in the oxidative phosphorylation required for ATP production. Thirteen subunits of these complexes are encoded by the mitochondrial genome often referred to as mtDNA. For this reason, the expression of mtDNA is vital for the assembly and functioning of the oxidative phosphorylation complexes. Defects of the mechanisms regulating mtDNA gene expression have been associated with deficiencies in assembly of these complexes, resulting in mitochondrial diseases. Recently, numerous factors involved in these processes have been identified and characterized leading to a deeper understanding of the mechanisms that underlie mitochondrial diseases.
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