Research Themes Mitochondrial diseases Complex I assembly pathway elucidation
Our elucidation of the complex I assembly pathway provided a framework to identify the causes and consequences of mitochondrial complex I deficiency. Thanks to this knowledge we discovered several new disease genes like TMEM126B, ACAD9, NDUFAF3 and NDUFAF4 and improved our understanding of the disease mechanisms in mitochondrial patients. Cell Metabolism 2017.