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Azasugar inhibitors as pharmacological chaperones for Krabbe disease.


Type

Article

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Authors

Hill, Chris H 
Viuff, Agnete H 
Spratley, Samantha J 
Salamone, Stéphane 
Christensen, Stig H 

Abstract

Krabbe disease is a devastating neurodegenerative disorder characterized by rapid demyelination of nerve fibers. This disease is caused by defects in the lysosomal enzyme β-galactocerebrosidase (GALC), which hydrolyzes the terminal galactose from glycosphingolipids. These lipids are essential components of eukaryotic cell membranes: substrates of GALC include galactocerebroside, the primary lipid component of myelin, and psychosine, a cytotoxic metabolite. Mutations of GALC that cause misfolding of the protein may be responsive to pharmacological chaperone therapy (PCT), whereby small molecules are used to stabilize these mutant proteins, thus correcting trafficking defects and increasing residual catabolic activity in cells. Here we describe a new approach for the synthesis of galacto-configured azasugars and the characterization of their interaction with GALC using biophysical, biochemical and crystallographic methods. We identify that the global stabilization of GALC conferred by azasugar derivatives, measured by fluorescence-based thermal shift assays, is directly related to their binding affinity, measured by enzyme inhibition. X-ray crystal structures of these molecules bound in the GALC active site reveal which residues participate in stabilizing interactions, show how potency is achieved and illustrate the penalties of aza/iminosugar ring distortion. The structure-activity relationships described here identify the key physical properties required of pharmacological chaperones for Krabbe disease and highlight the potential of azasugars as stabilizing agents for future enzyme replacement therapies. This work lays the foundation for new drug-based treatments of Krabbe disease.

Description

Keywords

0601 Biochemistry and Cell Biology, 1101 Medical Biochemistry and Metabolomics, Biomedical, Basic Science, Neurosciences, Stem Cell Research, Rare Diseases, Stem Cell Research - Nonembryonic - Human, Brain Disorders, Orphan Drug, Neurodegenerative, Generic Health Relevance, 2.1 Biological and endogenous factors

Journal Title

Chem Sci

Conference Name

Journal ISSN

2041-6520
2041-6539

Volume Title

6

Publisher

Royal Society of Chemistry (RSC)
Sponsorship
Royal Society (UF150682)
The Royal Society (uf100371)
Wellcome Trust (082961/Z/07/Z)
Wellcome Trust (100140/Z/12/Z)
We thank Stephen Graham for helpful discussions. We acknowledge Diamond Light Source for time on beamline I04-1 and I02 under proposal MX8547. C.H.H. is funded by a Wellcome Trust PhD studentship; S.J.S. is funded by an MRC PhD studentship; and J.E.D. is supported by a Royal Society University Research Fellowship (UF100371). R.J.R. is funded by a Wellcome Trust Principal Research Fellowship (Grant 082961/Z/ 07/Z). We are also grateful for funding from The Lundbeck Foundation to A.H. V, S. S. and H. H. J. The Cambridge Institute for Medical Research is supported by Wellcome Trust Strategic Award 100140. Notes and