N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a G M1 -gangliosidosis related human lysosomal β-galactosidase mutant
| Autor: | Christina Tysoe, Stephen G. Withers, Werner Windischhofer, Roland Fischer, Michael Schalli, Martin Thonhofer, Eduard Paschke, Bettina M. Pabst, Tanja Rappitsch, Marion Tschernutter, Arnold E. Stütz |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Cyclopentanes 010405 organic chemistry Stereochemistry Chemistry GM1 Gangliosidosis Organic Chemistry Mutant Carbasugars General Medicine medicine.disease 01 natural sciences Biochemistry 0104 chemical sciences Analytical Chemistry Pharmacological chaperone 03 medical and health sciences chemistry.chemical_compound 030104 developmental biology Lysosomal storage disease medicine Amine gas treating Hydroxymethyl medicine.drug |
| Zdroj: | Carbohydrate Research. :15-22 |
| ISSN: | 0008-6215 |
| DOI: | 10.1016/j.carres.2017.03.009 |
| Popis: | From 1,2;3,4-di-O-isopropylidene-α-D-galactopyranose, a series of highly functionalized (hydroxymethyl)cyclopentanes was easily available. In line with reports by Reymond and Jager on similar structures, these amine containing basic carbasugars are potent inhibitors of β-D-galactosidases and, for the first time, could be shown to act as pharmacological chaperones for GM1-gangliosidosis-associated lysosomal acid β-galactosidase mutant R201C, thus representing a new structural type of pharmacological chaperones for this lysosomal storage disease. |
| Databáze: | OpenAIRE |
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