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Current Projects

To further characterize the emerging MD-cancer continuum, our group studies the (mechanistic) link between MD genes and their potential role as tumor suppressors. Based on preliminary findings, we hypothesize that MD gene products are implicated in directly regulating chromosomal stability. Specifically, we aim to examine the disruption of MD genes leads to genetic instability cultured primary myogenic cells and set out to pinpoint the stages of cell division at which defects are caused by MD genes loss. Results from these studies will have implications for understanding the pathogenesis of MDs and may in the long run yield entirely new approaches to treatment.

The vast majority of neurodegenerative diseases are still poorly understood. Our group showed that a loss-of-function mutation in the murine Scyl1 gene causes an early-onset neurodegenerative disease characterized by limb paralysis and gait ataxia due to neuronal cell death in the spinal cord and cerebellum. Very recently, we provided the first report on a human hepatocerebellar neuropathy syndrome (characterized by recurrent episodes of acute liver failure in infancy, cerebellar atrophy, ataxia, and peripheral neuropathy), caused by bi-allelic mutations in the human SCYL1 gene. As SCYL1 is functionally involved in the retrograde Golgi-ER transport, we investigate the intracellular transport machinery and Golgi function in Scyl1-deficient conditions, aiming at understanding how loss of Scyl1 can cause neurodegeneration and liver failure as well.