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Journal Articles

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

In collection:
Rare Disease Translational Research
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
Journal: Disease Models & Mechanisms
Dis Model Mech (2020) 13 (11): dmm046425.
https://doi.org/10.1242/dmm.046425
Published: 18 November 2020
...-subunit of GlcNAc-1-phosphotransferase, the key enzyme ensuring proper intracellular location of multiple lysosomal enzymes. Patients with MLIII gamma typically present with osteoarthritis and joint stiffness, suggesting cartilage involvement. Using Gnptg knockout ( Gnptg ko ) mice as a model of the human...
View article titled, Imbalanced cellular metabolism compromises cartilage homeostasis and <span class="search-highlight">joint</span> function in a mouse model of mucolipidosis type III gamma
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Includes: Supplementary data