Inherited diseases caused by mutations in cathepsin protease genes.

Abstract excerpt

Lysosomal cathepsins are proteolytic enzymes increasingly recognized as prognostic markers and potential therapeutic targets in a variety of diseases. In those conditions, the cathepsins are mostly overexpressed, thereby driving the respective pathogenic processes. Although less known, there are also diseases with a genetic deficiency of cathepsins. In fact, nowadays 6 of the 15 human proteases called...

Topics

• Animals
• Cathepsins
• Humans
• Mutation
• Neuronal Ceroid-Lipofuscinoses
• Papillon-Lefevre Disease
• Pycnodysostosis