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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Autors principals:	Lena Marie Westermann, Lutz Fleischhauer, Jonas Vogel, Zsuzsa Jenei-Lanzl, Nataniel Floriano Ludwig, Lynn Schau, Fabio Morellini, Anke Baranowsky, Timur A. Yorgan, Giorgia Di Lorenzo, Michaela Schweizer, Bruna de Souza Pinheiro, Nicole Ruas Guarany, Fernanda Sperb-Ludwig, Fernanda Visioli, Thiago Oliveira Silva, Jamie Soul, Gretl Hendrickx, J. Simon Wiegert, Ida V. D. Schwartz, Hauke Clausen-Schaumann, Frank Zaucke, Thorsten Schinke, Sandra Pohl, Tatyana Danyukova
Format:	Artigo
Idioma:	Inglês
Publicat:	The Company of Biologists 2020-11-01
Col·lecció:	Disease Models & Mechanisms
Matèries:	mliii gamma lysosomal enzymes joints extracellular matrix cartilage tendon
Accés en línia:	http://dmm.biologists.org/content/13/11/dmm046425
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