Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept

Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept

Galactosialidosis is a rare lysosomal storage disease caused by a congenital defect of protective protein/cathepsin A (PPCA) and secondary deficiency of neuraminidase-1 and β-galactosidase. PPCA is a lysosomal serine carboxypeptidase that functions as a chaperone for neuraminidase-1 and β-galactosid...

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Bibliographic Details
Main Authors: Jaclyn Cadaoas, Huimin Hu, Gabrielle Boyle, Elida Gomero, Rosario Mosca, Kartika Jayashankar, Mike Machado, Sean Cullen, Belle Guzman, Diantha van de Vlekkert, Ida Annunziata, Michel Vellard, Emil Kakkis, Vish Koppaka, Alessandra d’Azzo
Format: Article
Language:English
Published: Elsevier 2021-03-01
Series:Molecular Therapy: Methods & Clinical Development
Subjects:
ERT
galactosialidosis
lysosomal glycoproteinosis
recombinant Protective protein/cathepsin A
lysosomal NEU1
β-GAL
Online Access:http://www.sciencedirect.com/science/article/pii/S2329050120302394

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http://www.sciencedirect.com/science/article/pii/S2329050120302394

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