Mucolipidosis II (MLII) is a rare lysosomal storage disorder causing diverse clinical symptoms such as skeletal and craniofacial defects and heart abnormalities. Petrey et al. probe the molecular mechanisms underlying craniofacial defects that are recapitulated in a zebrafish model of MLII they developed previously. Analysis of chondrocyte-enriched populations shows that zebrafish MLII embryos have increased activity of several enzymes involved in remodelling of the extracellular matrix, particularly cathepsins L and K and matrix metalloproteinase 13. Exposure of MLII embryos to a cathepsin K inhibitor lessens the disease phenotype. These data pinpoint new players in MLII that will guide further studies of the disease. Page 177
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IN THIS ISSUE| 01 March 2012
Probing pathomechanisms of mucolipidosis II in fish
Online ISSN: 1754-8411
Print ISSN: 1754-8403
Written by editorial staff. © 2012. Published by The Company of Biologists Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial Share Alike License (http://creativecommons.org/licenses/by-nc-sa/3.0), which permits unrestricted non-commercial use, distribution and reproduction in any medium provided that the original work is properly cited and all further distributions of the work or adaptation are subject to the same Creative Commons License terms.
Dis Model Mech (2012) 5 (2): 147.
Probing pathomechanisms of mucolipidosis II in fish. Dis Model Mech 1 March 2012; 5 (2): 147. doi:
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