Article
MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment.
Molecular genetics and metabolism - 1 Feb 2022
Entchev Eugeni, Antonelli Sophie, Mauro Virginie, Cimbolini Nicolas, Jantzen Ingrid, Roussey Aurelie, Germain Jeanne-Marie, Zhang Haoyue, Luccarrini Jean-Michel, Lacombe Olivier, Young Sarah P, Feraille Laurence, Tallandier Mireille
Abstract excerpt
Maroteaux - Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is a lysosomal storage disease resulting from insufficient enzymatic activity for degradation of the specific glycosaminoglycans (GAG) chondroitin sulphate (CS) and dermatan sulphate (DS). Among the most pronounced MPS VI clinical manifestations caused by cellular accumulation of excess CS and DS are eye disorders, in particular those that affect...
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