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

• Main Authors: Aaron C. Petrey (Author), Heather Flanagan-Steet (Author), Steven Johnson (Author), Xiang Fan (Author), Mitche De la Rosa (Author), Mark E. Haskins (Author), Alison V. Nairn (Author), Kelley W. Moremen (Author), Richard Steet (Author)
• Format: Bog
• Udgivet: The Company of Biologists, 2012-03-01T00:00:00Z.
• Fag: article
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SUMMARY 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 molecula...