Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Di Lorenzo, Giorgia, Westermann, Lena M., Yorgan, Timur A., Stürznickel, Julian, Ludwig, Nataniel F., Ammer, Luise S., Baranowsky, Anke, Ahmadi, Shiva, Pourbarkhordariesfandabadi, Elham, Breyer, Sandra R., Board, Tim N., Foster, Anne, Mercer, Jean, Tylee, Karen, Velho, Renata Voltolini, Schweizer, Michaela, Renné, Thomas, Braulke, Thomas, Randon, Dévora N., Sperb-Ludwig, Fernanda, de Camargo Pinto, Louise Lapagesse, Moreno, Carolina Araujo, Cavalcanti, Denise P., Amling, Michael, Kutsche, Kerstin, Winter, Dominic, Muschol, Nicole M., Schwartz, Ida V. D., Rolvien, Tim, Danyukova, Tatyana, Schinke, Thorsten, Pohl, Sandra
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma
Westermann, Lena M, Fleischhauer, Lutz, Vogel, Jonas, Jenei-Lanzl, Zsuzsa, Floriano Ludwig, Nataniel, 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
Published in Disease models & mechanisms (01.01.2020)
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Published in Disease models & mechanisms (01.01.2020)
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