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AG Dr. Michael Schäfer

Note: Dr. Michael Schäfer has left the University Freiburg. He is now University Professor in Mainz. Contact


Cell adhesion proteins and human diseases

Neural cell adhesion molecules of the immunoglobulin superfamily are important to establish neuronal connectivity and participate in neuronal migration, axon growth as well as synapse formation and plasticity. Dysfunction of NCAMs caused by genetic or environmental factors is involved in many neurological conditions. For example, human pathological mutations in the neural cell adhesion molecule L1CAM lead to a variety of neurodevelopmental disorders including spastic paraplegia, hydrocephalus and mental retardation. We are interested in the underlying mechanisms and focus our research on the functional characterization of human L1CAM missense mutations. Along this line, our major interest is to investigate disease-associated defects in the intracellular sorting of L1CAM and their consequences for axon growth and synapse formation in vitro. For this aim we are using a broad range of cell biological, biochemical and microscopic techniques. Our second research interest is to understand the function of CAMs belonging to the IgLON subgroup of the immunoglobulin superfamily. Members of this subgroup are thought to regulate axon growth and synapse formation in the developing brain. Mutations in these genes have been suggested to associate with cognitive and psychiatric disorders as well as alterations in the central nervous regulation of body weigth.

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