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Lysosomal Disorders of the BrainRecent Advances in Molecular and Cellular Pathogenesis and Treatment$
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Frances Platt and Steven Walkley

Print publication date: 2004

Print ISBN-13: 9780198508786

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780198508786.001.0001

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Defects in lysosomal enzyme protection: galactosialidosis

Defects in lysosomal enzyme protection: galactosialidosis

Chapter:
(p.170) Chapter 7 Defects in lysosomal enzyme protection: galactosialidosis
Source:
Lysosomal Disorders of the Brain
Author(s):

Alessandra d'Azzo

Publisher:
Oxford University Press
DOI:10.1093/acprof:oso/9780198508786.003.0007

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.

Keywords:   protective protein, cathepsin A, lysosomal multi-enzyme complex, lysosomal storage disorder, nervous system

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