Speaker
Sven Hürländer
(Department of Chemistry, University of Hamburg)
Description
Dominant missense mutations in eight aminoacyl-tRNA synthetases (aaRSs) are associated with axonal and intermediate forms of Charcot-Marie-Tooth (CMT) disease. The molecular mechanisms by which these ubiquitously expressed enzymes cause selective peripheral neuronal degeneration remain elusive. To address this, we use cell models and patient-derived materials. Employing a variety of high-resolution approaches (e.g. microscopy, NGS, AI-based, biochemical methods), we discovered a common mechanism of tRNA sequestration that alters translation and is likely linked to accelerated neuronal degeneration.
Author
Sven Hürländer
(Department of Chemistry, University of Hamburg)
