Individualized screening for chaperone activity in Gaucher disease using multiple patient derived primary cell lines.

The knowledge of individual response to a therapy, which can be assesed by screening, is essential for the development of therapeutics. Chaperone therapy is based on the ability of small molecules to fold the mutant protein to recover its function. As a novel approach for the treatment of Gaucher disease (GD), ambroxol was recently identified as a chaperone for GD, caused by the pathogenic variants in gene, resulting in lysosomal enzyme glucocerebrosidase (GCase) deficiency.