Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept
Jaclyn Cadaoas, Huimin Hu, Gabrielle Boyle, Elida Gomero, Rosario Mosca, Kartika Jayashankar, Mike Machado, Sean P. Cullen, Belle Guzman, Diantha van de Vlekkert, Ida Annunziata, Michel Vellard, Emil Kakkis, Vish Koppaka, Alessandra d’Azzo
Abstract
), a faithful model of the disease, demonstrated a dose-dependent, systemic internalization of the enzyme by cells of various organs, including the brain. This resulted in restoration/normalization of the three enzyme activities, resolution of histopathology, and reduction of sialyloligosacchariduria. These positive results underscore the benefits of a PPCA-mediated enzyme replacement therapy for the treatment of galactosialidosis.
Topics & Concepts
Cathepsin AEnzyme replacement therapyNeuraminidaseLysosomal storage diseaseRecombinant DNAEnzymeBiochemistryCathepsinBiologyMolecular biologyMedicineChemistryPathologyDiseaseGeneLysosomal Storage Disorders ResearchTrypanosoma species research and implicationsCellular transport and secretion