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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons 2013
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914524/
https://www.ncbi.nlm.nih.gov/pubmed/24127423
http://dx.doi.org/10.1002/emmm.201302979

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