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Project 10 (University of Göttingen)

Mutational analysis and rescue of arylsulfatase A and galactocerebrosidase activity by protease inhibitors as a novel therapeutic approach for metachromatic leukodystrophy and globoid cell leukodystrophy


Many patients with juvenile or adult metachromatic leukodystrophy bear a missense mutation allele which causes substitution of proline 426 by leucine. After lysosomal delivery the defective enzyme is rapidly degraded by cathepsin L. This project will develop cathepsin L inhibitors as therapeutic molecules to stabilize the defective enzyme in late onset MLD patients. MLD is in the focus of this project but experiments will be extended to adult GLD.

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Investigator:


Robert Steinfeld


Contact:


Prof. Dr. Dr. med. Robert Steinfeld

Abteilung Pädiatrie II
Klinik für Kindert- und Jugendmedizin
Robert-Koch-Strasse 40
D-37075 Göttingen

Phone +49 (0) 551 3922570


Email rsteinfeld@med.uni-goettingen.de





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