Ontology highlight
ABSTRACT:
SUBMITTER: Wesley NA
PROVIDER: S-EPMC5696030 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Wesley Nathaniel A NA Wachnowsky Christine C Fidai Insiya I Cowan J A JA
The FEBS journal 20171012 22
Iron-sulfur (Fe/S) cluster-containing proteins constitute one of the largest protein classes, with highly varied function. Consequently, the biosynthesis of Fe/S clusters is evolutionarily conserved and mutations in intermediate Fe/S cluster scaffold proteins can cause disease, including multiple mitochondrial dysfunctions syndrome (MMDS). Herein, we have characterized the impact of defects occurring in the MMDS1 disease state that result from a point mutation (p.Gly189Arg) near the active site ...[more]