Mitochondrial dysfunction and the metabolism - studies on respiratory chain disorders
Background: Mutations of the mitochondrial assembly factor BCS1L disrupt assembly and function of the respiratory chain complex III (CIII) and thereby result in energy deprivation. In GRACILE syndrome, the BCS1L mutation causes a liver disorder that leads to metabolic disturbances associated with severe growth restriction.Objectives: To clarify the mechanisms and affected metabolic pathways in the
