Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1998275 | Molecular Genetics and Metabolism | 2015 | 9 Pages |
Abstract
The results of this study establish that failed vertebral bone formation in MPS VII can be traced to the failure of epiphyseal chondrocytes to undergo hypertrophic differentiation at the appropriate developmental stage, and suggest that aberrant processing of Sox9 protein may contribute to this cellular dysfunction. These results also highlight the importance of early diagnosis and therapeutic intervention to prevent the progression of debilitating skeletal disease in MPS patients.
Keywords
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Authors
Sun H. Peck, Philip J.M. O'Donnell, Jennifer L. Kang, Neil R. Malhotra, George R. Dodge, Maurizio Pacifici, Eileen M. Shore, Mark E. Haskins, Lachlan J. Smith,