Defects in lysosomal enzyme protection: galactosialidosis
Galactosialidosis (GS) is a neurodegenerative lysosomal storage disorder of glycoprotein metabolism. This disease is unique among storage diseases in that it is caused by a primary defect in a protease, the protective protein/cathepsin A (PPCA). Mutations at the PPCA locus give rise to a prototypical lysosomal disease with heterogeneous clinical manifestations affecting both systemic organs and the nervous system. It is, however, not known to what extent loss of cathepsin A activity contributes to the clinical manifestations in GS patients. The mouse model of GS mimics closely the human severe phenotype and represents a valuable tool for studying the pathogenesis of the disease and developing and implementing therapy. This chapter reviews what has been learned so far about the enzyme and how this knowledge may help to understand the disease.
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