Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

Mucolipidosis type III (MLIII) gamma is a rare inherited lysosomal storage disorder caused by mutations in GNPTG encoding the γ-subunit of GlcNAc-1-phosphotransferase, the key enzyme ensuring proper intracellular location of multiple lysosomal enzymes. Patients with MLIII gamma typically present wit...

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Detalles Bibliográficos
Autores principales: Westermann, Lena Marie, Fleischhauer, Lutz, Vogel, Jonas, Jenei-Lanzl, Zsuzsa, Ludwig, Nataniel Floriano, Schau, Lynn, Morellini, Fabio, Baranowsky, Anke, Yorgan, Timur A., Di Lorenzo, Giorgia, Schweizer, Michaela, de Souza Pinheiro, Bruna, Guarany, Nicole Ruas, Sperb-Ludwig, Fernanda, Visioli, Fernanda, Oliveira Silva, Thiago, Soul, Jamie, Hendrickx, Gretl, Wiegert, J. Simon, Schwartz, Ida V. D., Clausen-Schaumann, Hauke, Zaucke, Frank, Schinke, Thorsten, Pohl, Sandra, Danyukova, Tatyana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7687858/
https://www.ncbi.nlm.nih.gov/pubmed/33023972
http://dx.doi.org/10.1242/dmm.046425

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7687858/
https://www.ncbi.nlm.nih.gov/pubmed/33023972
http://dx.doi.org/10.1242/dmm.046425

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