Abstract
Protective protein/cathepsin A (PPCA) is a lysosomal carboxypeptidase that is deficient in Galactosialidosis (GS), an autosomal recessive, neurodegenerative lysosomal disorder affecting most of the systemic organs and the central and peripheral nervous systems. The GS mouse model resembles closely the severe human condition and develops a progressive neurological phenotype including loss of hearing and motor coordination.
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