Ontology highlight
ABSTRACT:
SUBMITTER: Kaguni LS
PROVIDER: S-EPMC4733421 | biostudies-literature | 2016 Jan-Feb
REPOSITORIES: biostudies-literature
Kaguni Laurie S LS Oliveira Marcos T MT
Critical reviews in biochemistry and molecular biology 20151129 1
The mitochondrial replicative DNA helicase is essential for animal mitochondrial DNA (mtDNA) maintenance. Deleterious mutations in the gene that encodes it cause mitochondrial dysfunction manifested in developmental delays, defects and arrest, limited life span, and a number of human pathogenic phenotypes that are recapitulated in animals across taxa. In fact, the replicative mtDNA helicase was discovered with the identification of human disease mutations in its nuclear gene, and based upon its ...[more]