Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis

Abstract

AbstractTo clarify the molecular basis of the late infantile form of galactosialidosis, we characterized a defective protective protein/cathepsin A (PPCA) gene product with the K453E mutation newly found in an Arabic patient with this disease. Immunocytochemical, expression, and metabolic studies revealed that the precursor PPCA was synthesized but not… (More)
DOI: 10.1007/s100380070027

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