Ontology highlight
ABSTRACT:
SUBMITTER: Zhang F
PROVIDER: S-EPMC9035099 | biostudies-literature | 2022 May
REPOSITORIES: biostudies-literature
Zhang Fang F Dang Quynh-Chi L QL Vik Steven B SB
Mitochondrion 20220317
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 critical residues. These mutations have been modeled in E. coli subunits of Complex I, nu ...[more]