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

• Main Authors: Lena Marie Westermann (Author), Lutz Fleischhauer (Author), Jonas Vogel (Author), Zsuzsa Jenei-Lanzl (Author), Nataniel Floriano Ludwig (Author), Lynn Schau (Author), Fabio Morellini (Author), Anke Baranowsky (Author), Timur A. Yorgan (Author), Giorgia Di Lorenzo (Author), Michaela Schweizer (Author), Bruna de Souza Pinheiro (Author), Nicole Ruas Guarany (Author), Fernanda Sperb-Ludwig (Author), Fernanda Visioli (Author), Thiago Oliveira Silva (Author), Jamie Soul (Author), Gretl Hendrickx (Author), J. Simon Wiegert (Author), Ida V. D. Schwartz (Author), Hauke Clausen-Schaumann (Author), Frank Zaucke (Author), Thorsten Schinke (Author), Sandra Pohl (Author), Tatyana Danyukova (Author)
• Format: Book
• Published: The Company of Biologists, 2020-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...