Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II

Mucolipidosis type II (MLII) is a severe multi-systemic genetic disorder caused by missorting of lysosomal proteins and the subsequent lysosomal storage of undegraded macromolecules. Although affected children develop disabling skeletal abnormalities, their pathogenesis is not understood. Here we re...

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Hlavní autoři: Kollmann, Katrin, Pestka, Jan Malte, Kühn, Sonja Christin, Schöne, Elisabeth, Schweizer, Michaela, Karkmann, Kathrin, Otomo, Takanobu, Catala-Lehnen, Philip, Failla, Antonio Virgilio, Marshall, Robert Percy, Krause, Matthias, Santer, Rene, Amling, Michael, Braulke, Thomas, Schinke, Thorsten
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons 2013
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Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3914524/
https://ncbi.nlm.nih.gov/pubmed/24127423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/emmm.201302979
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