Several lysosomal storage disorders are characterized by aberrant calcium handling in affected cells (reviewed in Kiselyov et al, 2010, Cell Calcium 47:103-11). Increasing ER calcium stabilizes several lysosomal enzymes. It was shown that the chaperone calnexin significantly contributes to this phenomenon for glucocerebrosidase (Ong et al, 2010, Nat Chem Biol 6:424-32).

For more info on Gaucher disease, check out the OMMBID abstract here:

http://dx.doi.org/10.1036/ommbid.176

For other LSDs click here.

Posted by Philippe Campeau, MD