Team Rebholz

Variants of hundreds of genes have been shown to  lead to  neurodevelopmental and autism spectrum disorder (ASD). Amongst these genes are many kinases, however, their role in the etiology of ASD is not well understood. We study in detail, in mouse models, how mutations in kinase genes affect the phosphorylation of the overall proteome in a cell-specific manner, given that different cell types, in particular different neuronal types, exhibit their own distinct and characteristic  proteome and specific mechanisms that regulate the activities of kinases.

We generated several mouse models of a newly described autism-condition that is linked to mutations in the gene encoding  for a kinase termed CK2. We aim to understand to what degree these models copy the human condition and what the underlying mechanisms are that lead to pathophysiologal alterations. Ultimately, we will test, in our models, if  pharmacological and genetical interventions to rescue the function of the kinase CK2 or its downstream effectors can reverse the phenotypes.  Our work has a clear translational mandate, to  find targets for therapies for OCNDS and for autism patients in general.

We also pursue a research axis to dissect network and biochemical alterations in Parkinson’s disease in a mouse models of Parkinson’s disease and of L-DOPA induced dyskinesia.