Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis II
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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
The Company of Biologists
2012-03-01
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Series: | Disease Models & Mechanisms |
Online Access: | http://dmm.biologists.org/content/5/2/177 |