Ontology highlight
ABSTRACT:
SUBMITTER: Dudek J
PROVIDER: S-EPMC4734842 | biostudies-other | 2016 Feb
REPOSITORIES: biostudies-other
Dudek Jan J Cheng I-Fen IF Chowdhury Arpita A Wozny Katharina K Balleininger Martina M Reinhold Robert R Grunau Silke S Callegari Sylvie S Toischer Karl K Wanders Ronald Ja RJ Hasenfuß Gerd G Brügger Britta B Guan Kaomei K Rehling Peter P
EMBO molecular medicine 20160201 2
Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin. It has remained enigmatic as to why a systemic loss of cardiolipin leads to cardiomyopathy. Using a genetic ablation of tafazzin function in the BTHS mouse model, we identified severe structural changes in respiratory chain supercomplexes at a pre-onset stage of the disease. This reorganization of supercomplexes was specific ...[more]