4-epi-Isofagomine derivatives as pharmacological chaperones for the treatment of lysosomal diseases linked to β-galactosidase mutations: Improved synthesis and biological investigations.

Details

Serval ID
serval:BIB_83B58836AAA0
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
4-epi-Isofagomine derivatives as pharmacological chaperones for the treatment of lysosomal diseases linked to β-galactosidase mutations: Improved synthesis and biological investigations.
Journal
Bioorganic & medicinal chemistry
Author(s)
Front S., Almeida S., Zoete V., Charollais-Thoenig J., Gallienne E., Marmy C., Pilloud V., Marti R., Wood T., Martin O.R., Demotz S.
ISSN
1464-3391 (Electronic)
ISSN-L
0968-0896
Publication state
Published
Issued date
01/11/2018
Peer-reviewed
Oui
Volume
26
Number
20
Pages
5462-5469
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
(5aR)-5a-C-pentyl-4-epi-isofagomine 1 is a powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B. We report herein an improved synthesis of this compound and analogs (5a-C-methyl, pentyl, nonyl and phenylethyl derivatives), and a crystal structure of a synthetic intermediate that confirms its configuration resulting from the addition of a Grignard reagent. These compounds were evaluated as glycosidase inhibitors and their potential as chaperones for mutant lysosomal galactosidases determined. Based on these results and on docking studies, the 5-C-pentyl derivative 1 was selected as the optimal structure for further investigations: this compound induces the maturation of mutated β-galactosidase in fibroblasts of a GM1-gangliosidosis patient and promote the decrease of keratan sulfate and oligosaccharide load in patient cells. Compound 1 is clearly capable of restoring β-galactosidase activity and of promoting maturation of the protein, which should result in significant clinical benefit. These properties strongly support the development of compound 1 for the treatment of GM1-gangliosidosis and Morquio disease type B patients harboring β-galactosidase mutations sensitive to pharmacological chaperoning.
Pubmed
Web of science
Create date
22/01/2019 12:08
Last modification date
21/08/2019 6:37
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