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

• मुख्य लेखकों: Lena Marie Westermann (लेखक), Lutz Fleischhauer (लेखक), Jonas Vogel (लेखक), Zsuzsa Jenei-Lanzl (लेखक), Nataniel Floriano Ludwig (लेखक), Lynn Schau (लेखक), Fabio Morellini (लेखक), Anke Baranowsky (लेखक), Timur A. Yorgan (लेखक), Giorgia Di Lorenzo (लेखक), Michaela Schweizer (लेखक), Bruna de Souza Pinheiro (लेखक), Nicole Ruas Guarany (लेखक), Fernanda Sperb-Ludwig (लेखक), Fernanda Visioli (लेखक), Thiago Oliveira Silva (लेखक), Jamie Soul (लेखक), Gretl Hendrickx (लेखक), J. Simon Wiegert (लेखक), Ida V. D. Schwartz (लेखक), Hauke Clausen-Schaumann (लेखक), Frank Zaucke (लेखक), Thorsten Schinke (लेखक), Sandra Pohl (लेखक), Tatyana Danyukova (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: The Company of Biologists, 2020-11-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...