This project is aimed at the functional rescue of proteins that are mutated in rare diseases. Due to the mutation the protein folding is incorrect yielding a non-functional protein or a reduced enzymatic activity. Chemical chaperones can enhance the folding and/or stability of proteins and can assist in the treatment of protein misfolding.
We have obtained several series of new active molecules, namely polyhydroxylated aminocyclitols and iminosugars that may have use in the treatment of glycolipid storage lysosomal diseases such as Gaucher’s disease.
This work has been developed in collaboration with Glycobiology Institute, Oxford University (UK).