CORDIS Project
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This project focuses on understanding the mechanisms by which pharmacological chaperones stabilize mutant lysosomal enzymes to treat lysosomal storage disorders, specifically Gaucher and Fabry diseases. By employing advanced techniques like mass spectrometry and nuclear magnetic resonance, the project aims to enhance t…
Lysosomal storage disorders (LSDs) are a group of 50 rare inherited metabolic disorders that in many cases originate from mutations that destabilise glycosidase 3D folding precluding its transportation to the lysosomes, which leads to substrate accumulation at the lysosomes and cellular dysfunction, with severe symptoms.
An emerging therapeutic approach employs small molecules, called pharmacological chaperones (PCs). PCs bind and stabilize the folding of mutant lysosomal enzymes, allowing prope…
UNIVERSITY OF EAST ANGLIA
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