CORDIS Project
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This project investigates Mucopolysaccharidosis-VI, a genetic disorder affecting skeletal development, using a mouse model to explore the effects of enzyme replacement therapy and the underlying cellular mechanisms. It aims to enhance understanding of related conditions like osteoporosis and osteoarthritis while provid…
Mucopolysaccharidosis-VI (MPS-VI) is a lysosomal storage disorder predominantly affecting skeletal remodelling and caused by pathogenic mutations in the ARSB gene, encoding the glycosaminoglycan-degrading enzyme arylsulfatase B.
Preliminary analysis of Arsb-deficient mice unraveled a skeletal phenotype of similar severity and with lysosomal storage defects in different skeletal cell types.
This Arsb-deficient mouse model therefore provides an excellent tool to understand the skeletal and non-ske…
UNIVERSITAETSKLINIKUM HAMBURG-EPPENDORF
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