Description of theme 1
Description of theme 2
Description of theme 3
   
 

P.O. Box 9101
6500 HB, Nijmegen
Geert Grooteplein 28
6525 GA, Nijmegen
T +31 24 3617431
F +31 24 3668752


Annette Schenck is Associate Professor and research group leader at the Department of Human Genetics. With her team, she dissects molecular networks and mechanisms underlying human brain function and disease using the fruitfly Drosophila as a model organism.
Dr. Annette Schenck

Our research focuses on dissecting molecular networks and mechanisms underlying human brain function and disease. Mutations in more than 400 genes are known to give rise to mental retardation, providing an exciting starting point into this problem. Some of these genes have been already shown to operate together to control specific aspects of nervous system development and function. We aim at systematically identifying such functional connections. In order to be able to investigate the large number of genes, we use the fruitfly Drosophila melanogaster as a model organism. In the fly, genes can be manipulated specifically in neurons with relative ease, and consequences for neuronal architecture, function and cognitive behaviour of the fly, such as learning and memory, can be studied and compared. Our long-term goal is to use the gained knowledge on mental retardation gene function and the fruitfly as a model to search for genetic and chemical modifiers of fly „mental retardation“ phenotypes. This research will identify novel candidate genes and potential medication for humans. Recent data indicate that some forms of mental retardation indeed result from reversible inabilities of the nervous system, raising serious hope that impaired cognition can be treated. Beyond the expected fundamental insights into molecular pathways wiring the brain, our research program also aims at significantly contributing to such developments.
 
Recent key publications

Anitei M, Stange C, Parshyna I, Baust T, Schenck A, Raposo G, Kirchhausen T and Hoflack B., Protein complexes containing CYFIP/Sra/PIR121 coordinate ARF1 and RAC1 signaling during clathrin-AP-1-coated carrier biogenesis at the TGN
Nature Cell Biology, 2010, Apr;12(4):330-40.

Zweier, C., de Jong, E.K., Zweier, M., Orrico, A., Ousager, L.B., Collins A.L., Bijlsma, E.K, Oortveld, M.A.W., Ekici, A.B., Reis A., Schenck, A. and Rauch, A. , CNTNAP2 and NRXN1 are mutated in recessive, severe mental retardation resembling Pitt-Hopkins syndrome and target a common synaptic protein in Drosophila. Am J Human Genetics, 2009, 85(5):655-66.

Schenck, A., Goto-Silva, L., Collinet, C., Rhinn, M., Giner, A., Habermann, B., Brand, M., and Zerial, M. , The endosomal protein APPL1 mediates Akt substrate specificity and cell survival in vertebrate development. Cell, 2008, 133(3): 486-497.

Qurashi, A., Sahin, B., Carrera, P., Gautreau, A., Schenck, A.* and Giangrande, A., * HSPC300 and its role in Neuronal connectivity Neural Development, 2007, 2(1): 18.
*corresponding authors

Kim, Y, Sung ,J.Y., Ceglia, I., Lee, K.W., Ahn, J., Halford, J.M., Kim, A., Kwak, S.P., Park, J.B., Ryu, S.H., Schenck, A., Bardoni, B., Scott, J.D., Nairn, A.C., and Greengard, P. ,
Phosphorylation of WAVE1 regulates actin polymerization and dendritic spine morphology.
Nature, 2006, 442(7104): 814-7.

Schenck, A., Qurashi A., Carrera, P., Bardoni, B., Diebold, C., Schejter, E.D., Mandel J.L., and
Giangrande, A., WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity. Dev Biol, 2004, 274 (2) : 260-70.

Schenck, A., Bardoni, B., Langmann, C., Harden, N., Mandel, J.L. and Giangrande, A, .
CYFIP/Sra-1 regulates neuronal connectivity in Drosophila and links the Rac1 small GTPase pathway to the Fragile X protein. Neuron, 2003, 38(6): 887-98.