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GOLPH3 and GOLPH3L maintain Golgi localization of LYSET and a functional mannose 6-phosphate transport pathway GOLPH3和GOLPH3L维持LYSET的高尔基体定位和功能性甘露糖6-磷酸转运途径 Brauer, Berit K.; Chen, Zilei; Beirow, Felix; Li, Jiaran; Meisinger, Daniel; Capriotti, Emanuela; Schweizer, Michaela; Wagner, Lea; Wienberg, Jascha; Hobohm, Laura; Blume, Lukas; Qiao, Wenjie; Narimatsu, Yoshiki; Carette, Jan E.; Clausen, Henrik; Winter, Dominic; Braulke, Thomas; Jabs, Sabrina; Voss, Matthias 分享 收藏
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Mannose 6 Dephosphorylation of Lysosomal Proteins Mediated by Acid Phosphatases Acp2 and Acp5 Makrypidi, Georgia; Damme, Markus; Mueller-Loennies, Sven; Trusch, Maria; Schmidt, Bernhard; Schlueter, Hartmut; Heeren, Joerg; Luebke, Torben; Saftig, Paul; Braulke, Thomas 分享 收藏
Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI Nagpal, Rohit; Georgi, Gina; Knauth, Sarah; Schmid-Herrmann, Carmen; Muschol, Nicole; Braulke, Thomas; Kahl-Nieke, Baerbel; Amling, Michael; Schinke, Thorsten; Koehne, Till; Petersen, Julian 分享 收藏
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.; Stuerznickel, 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; Renne, Thomas; Braulke, Thomas; Randon, Devora 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 分享 收藏
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype 他莫昔芬的再利用改善了CLN3和CLN7疾病表型 Soldati, Chiara; Lopez-Fabuel, Irene; Wanderlingh, Luca G.; Garcia-Macia, Marina; Monfregola, Jlenia; Esposito, Alessandra; Napolitano, Gennaro; Guevara-Ferrer, Marta; Scotto Rosato, Anna; Krogsaeter, Einar K.; Paquet, Dominik; Grimm, Christian M.; Montefusco, Sandro; Braulke, Thomas; Storch, Stephan; Mole, Sara E.; De Matteis, Maria A.; Ballabio, Andrea; Sampaio, Julio L.; McKay, Tristan; Johannes, Ludger; Bolanos, Juan P.; Medina, Diego L. 分享 收藏
The Mucolipidosis Collaborative Research Network (MCRN) Klein, Jennifer J.; Klein, Terri L.; Noble, Jenny; Cathey, Sara S.; Stern, Joshua A.; Braulke, Thomas; d'Azzo, Alessandra; Ellinwood, N. Matthew; Flanagan-Steet, Heather; Bradbury, Allison M.; Steet, Richard 分享 收藏
Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria Sachs, Wiebke; Sachs, Marlies; Krueger, Elke; Zielinski, Stephanie; Kretz, Oliver; Huber, Tobias B.; Baranowsky, Anke; Westermann, Lena Marie; Velho, Renata Voltolini; Ludwig, Nataniel Floriano; Yorgan, Timur Alexander; Di Lorenzo, Giorgia; Kollmann, Katrin; Braulke, Thomas; Schwartz, Ida Vanessa; Schinke, Thorsten; Danyukova, Tatyana; Pohl, Sandra; Meyer-Schwesinger, Catherine 分享 收藏
Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking Schmidtke, Carolin; Tiede, Stephan; Thelen, Melanie; Kaekelae, Reijo; Jabs, Sabrina; Makrypidi, Georgia; Sylvester, Marc; Schweizer, Michaela; Braren, Ingke; Brocke-Ahmadinejad, Nahal; Cotman, Susan L.; Schulz, Angela; Gieselmann, Volkmar; Braulke, Thomas 分享 收藏
Influenza binds phosphorylated glycans from human lung Byrd-Leotis, Lauren; Jia, Nan; Dutta, Sucharita; Trost, Jessica F.; Gao, Chao; Cummings, Sandra F.; Braulke, Thomas; Mueller-Loennies, Sven; Heimburg-Molinaro, Jamie; Steinhauer, David A.; Cummings, Richard D. 分享 收藏
Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity Schmiesing, Jessica; Storch, Stephan; Doerfler, Ann-Cathrin; Schweizer, Michaela; Makrypidi-Fraune, Georgia; Thelen, Melanie; Sylvester, Marc; Gieselmann, Volkmar; Meyer-Schwesinger, Catherine; Koch-Nolte, Friedrich; Tidow, Henning; Muehlhausen, Chris; Waheed, Abdul; Sly, William S.; Braulke, Thomas 分享 收藏
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover Pohl, Sandra; Angermann, Alexandra; Jeschke, Anke; Hendrickx, Gretl; Yorgan, Timur A.; Makrypidi-Fraune, Georgia; Steigert, Anita; Kuehn, Sonja C.; Rolvien, Tim; Schweizer, Michaela; Koehne, Till; Neven, Mona; Winter, Olga; Velho, Renata Voltolini; Albers, Joachim; Streichert, Thomas; Pestka, Jan M.; Baldauf, Christina; Breyer, Sandra; Stuecker, Ralf; Muschol, Nicole; Cox, Timothy M.; Saftig, Paul; Paganini, Chiara; Rossi, Antonio; Amling, Michael; Braulke, Thomas; Schinke, Thorsten 分享 收藏
Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells Di Lorenzo, Giorgia; Velho, Renata Voltolini; Winter, Dominic; Thelen, Melanie; Ahmadi, Shiva; Schweizer, Michaela; De Pace, Raffaella; Cornils, Kerstin; Yorgan, Timur Alexander; Grueb, Saskia; Hermans-Borgmeyer, Irm; Schinke, Thorsten; Mueller-Loennies, Sven; Braulke, Thomas; Pohl, Sandra 分享 收藏
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms GNPTAB错义突变通过不同的机制导致II型粘脂症的GlcNAc-1-phosphotransferase活性丧失 Ludwig, Nataniel Floriano; Velho, Renata Voltolini; Sperb-Ludwig, Fernanda; Acosta, Angelina Xavier; Ribeiro, Erlane Marques; Kim, Chong A.; Gandelman Horovitz, Dafne Dam; Boy, Raquel; Rodovalho-Doriqui, Maria Juliana; Lourenco, Charles Marques; Santos, Emerson Santana; Braulke, Thomas; Pohl, Sandra; Schwartz, Ida Vanessa D. 分享 收藏
Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II Markmann, Sandra; Krambeck, Svenja; Hughes, Christopher J.; Mirzaian, Mina; Aerts, Johannes M. F. G.; Saftig, Paul; Schweizer, Michaela; Vissers, Johannes P. C.; Braulke, Thomas; Damme, Markus 分享 收藏
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Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I Kuehn, Sonja C.; Koehne, Till; Cornils, Kerstin; Markmann, Sandra; Riedel, Christoph; Pestka, Jan M.; Schweizer, Michaela; Baldauf, Christina; Yorgan, Timur A.; Krause, Matthias; Keller, Johannes; Neven, Mona; Breyer, Sandra; Stuecker, Ralf; Muschol, Nicole; Busse, Bjoern; Braulke, Thomas; Fehse, Boris; Amling, Michael; Schinke, Thorsten 分享 收藏
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