To identify genetic causes of neurological diseases, we utilize genome-wide next-generation sequencing approaches. We investigate the molecular mechanisms of disease mutations by generating patient-specific motor neurons from reprogrammed skin fibroblasts.
We investigate the consequences of disturbed mitochondrial proteostasis on cell and tissue function, as well as the role of mitochondria in maintaining cellular proteostasis. In relation to human disease, we are particularly interested in mitochondrial aminoacyl-tRNA synthetases that are associated with multiple tissue-specific mitochondrial diseases.