Ontology highlight
ABSTRACT:
SUBMITTER: Da-Re C
PROVIDER: S-EPMC4200275 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Da-Rè Caterina C von Stockum Sophia S Biscontin Alberto A Millino Caterina C Cisotto Paola P Zordan Mauro A MA Zeviani Massimo M Bernardi Paolo P De Pittà Cristiano C Costa Rodolfo R
The Journal of biological chemistry 20140827 42
Leigh Syndrome (LS) is the most common early-onset, progressive mitochondrial encephalopathy usually leading to early death. The single most prevalent cause of LS is occurrence of mutations in the SURF1 gene, and LS(Surf1) patients show a ubiquitous and specific decrease in the activity of mitochondrial respiratory chain complex IV (cytochrome c oxidase, COX). SURF1 encodes an inner membrane mitochondrial protein involved in COX assembly. We established a Drosophila melanogaster model of LS base ...[more]