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

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 mechan...

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Detalhes bibliográficos
Main Authors: Petrey, Aaron C., Flanagan-Steet, Heather, Johnson, Steven, Fan, Xiang, De la Rosa, Mitche, Haskins, Mark E., Nairn, Alison V., Moremen, Kelley W., Steet, Richard
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Limited 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3291639/
https://ncbi.nlm.nih.gov/pubmed/22046029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.008219
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