prof. dr. E.J.M. Storkebaum (Erik)

Hoogleraar - Donders Institute for Brain, Cognition and Behaviour
Hoogleraar - Molecular Neurobiology

prof. dr. E.J.M. Storkebaum (Erik)
Bezoekadres

Heyendaalseweg 135
6525 AJ NIJMEGEN
Interne postcode: 91

Postadres

Postbus 9010
6500 GL NIJMEGEN

The Storkebaum lab combines Drosophila and mouse genetics to decipher the molecular mechanisms underlying motor neurodegenerative disorders. Our primary focus is on Charcot-Marie-Tooth (CMT) peripheral neuropathy caused by heterozygous mutations in cytoplasmic tRNA synthetases, and on amyotrophic lateral sclerosis (ALS) caused by heterozygous mutations in the DNA/RNA-binding protein FUS. In addition, we are performing a forward genetic screen in Drosophila to identify genes required for axonal maintenance.

We use the fruit fly, Drosophila melanogaster, as an exploratory genetic model for these diseases, as it is ideally suited to conduct genetic screens, which allow for the identification of putative disease-modifying genes. Identified modifiers are subsequently validated, not only in Drosophila, but also in mouse models, as these are the most disease-relevant preclinical models currently available. This approach should allow us to gain novel insights into the molecular pathogenesis, and may result in the identification of therapeutic targets for these incurable neurodegenerative disorders.

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Publicaties

Onderzoeksbeurzen en -prijzen

Curriculum Vitae