Article
Human clinical mutations in mitochondrially encoded subunits of Complex I can be successfully modeled in E. coli.
Mitochondrion - 1 May 2022
Zhang Fang, Dang Quynh-Chi L, Vik Steven B
Abstract excerpt
Respiratory Complex I is the site of a large fraction of the mutations that appear to cause mitochondrial disease. Seven of its subunits are mitochondrially encoded, and therefore, such mutants are particularly difficult to construct in cell-culture model systems. We have selected 13 human clinical mutations found in ND2, ND3, ND4, ND4L, ND5 and ND6 that are generally found at subunit interfaces, and not in...
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