Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II.

ABSTRACT: The severe pediatric disorder mucolipidosis II (ML-II; also known as I-cell disease) is caused by defects in mannose 6-phosphate (Man-6-P) biosynthesis. Patients with ML-II exhibit multiple developmental defects, including skeletal, craniofacial and joint abnormalities. To date, the molecular mechanisms that underlie these clinical manifestations are poorly understood. Taking advantage of a zebrafish model of ML-II, we previously showed that the cartilage morphogenesis defects in this model are associated with altered chondrocyte differentiation and excessive deposition of type II collagen, indicating that aspects of development that rely on proper extracellular matrix homeostasis are sensitive to decreases in Man-6-P biosynthesis. To further investigate the molecular bases for the cartila

SUBMITTER: Petrey AC 

PROVIDER: S-EPMC3291639 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature