Lysosomal Dysfunction Caused by Cellular Accumulation of Silica Nanoparticles von Schütz, Irene, Lopez-Hernandez, Tania, Gao, Qi, Puchkov, Dmytro, Jabs, Sabrina, Nordmeyer, Daniel, Schmudde, Madlen, Rühl, Eckart, Graf, Christina M., Haucke, Volker

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A cation counterflux supports lysosomal acidification von Steinberg, Benjamin E., Huynh, Kassidy K., Brodovitch, Alexandre, Jabs, Sabrina, Stauber, Tobias, Jentsch, Thomas J., Grinstein, Sergio

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Lysosomal Pathology and Osteopetrosis upon Loss of H⁺-Driven Lysosomal Cl⁻ Accumulation von Weinert, Stefanie, Jabs, Sabrina, Supanchart, Chayarop, Schweizer, Michaela, Gimber, Niclas, Richter, Martin, Rademann, Jörg, Stauber, Tobias, Kornak, Uwe, Jentsch, Thomas J

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Disruption of the vacuolar-type H+-ATPase complex in liver causes MTORC1-independent accumulation of autophagic vacuoles and lysosomes von Kissing, Sandra, Rudnik, Sönke, Damme, Markus, Lüllmann-Rauch, Renate, Ichihara, Atsuhiro, Kornak, Uwe, Eskelinen, Eeva-Liisa, Jabs, Sabrina, Heeren, Jörg, De Brabander, Jef K., Haas, Albert, Saftig, Paul

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Impact of the gut microbiota on the m6A epitranscriptome of mouse cecum and liver von Jabs, Sabrina, Biton, Anne, Bécavin, Christophe, Nahori, Marie-Anne, Ghozlane, Amine, Pagliuso, Alessandro, Spanò, Giulia, Guérineau, Vincent, Touboul, David, Giai Gianetto, Quentin, Chaze, Thibault, Matondo, Mariette, Dillies, Marie-Agnès, Cossart, Pascale

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LYSET/TMEM251- a novel key component of the mannose 6-phosphate pathway von Qiao, Wenjie, Richards, Christopher M., Jabs, Sabrina

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Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins von Pechincha, Catarina, Groessl, Sven, Kalis, Robert, de Almeida, Melanie, Zanotti, Andrea, Wittmann, Marten, Schneider, Martin, de Campos, Rafael P., Rieser, Sarah, Brandstetter, Marlene, Schleiffer, Alexander, Müller-Decker, Karin, Helm, Dominic, Jabs, Sabrina, Haselbach, David, Lemberg, Marius K., Zuber, Johannes, Palm, Wilhelm

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Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking von Schmidtke, Carolin, Tiede, Stephan, Thelen, Melanie, Käkelä, Reijo, Jabs, Sabrina, Makrypidi, Georgia, Sylvester, Marc, Schweizer, Michaela, Braren, Ingke, Brocke-Ahmadinejad, Nahal, Cotman, Susan L., Schulz, Angela, Gieselmann, Volkmar, Braulke, Thomas

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The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection von Richards, Christopher M, Jabs, Sabrina, Qiao, Wenjie, Varanese, Lauren D, Schweizer, Michaela, Mosen, Peter R, Riley, Nicholas M, Klüssendorf, Malte, Zengel, James R, Flynn, Ryan A, Rustagi, Arjun, Widen, John C, Peters, Christine E, Ooi, Yaw Shin, Xie, Xuping, Shi, Pei-Yong, Bartenschlager, Ralf, Puschnik, Andreas S, Bogyo, Matthew, Bertozzi, Carolyn R, Blish, Catherine A, Winter, Dominic, Nagamine, Claude M, Braulke, Thomas, Carette, Jan E

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Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions von Weinert, Stefanie, Jabs, Sabrina, Hohensee, Svea, Chan, Wing Lee, Kornak, Uwe, Jentsch, Thomas J

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GOLPH3 and GOLPH3L maintain Golgi localization of LYSET and a functional mannose 6-phosphate transport pathway von 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

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Impact of the gut microbiota on the m 6 A epitranscriptome of mouse cecum and liver von Jabs, Sabrina, Biton, Anne, Bécavin, Christophe, Nahori, Marie-Anne, Ghozlane, Amine, Pagliuso, Alessandro, Spanò, Giulia, Guérineau, Vincent, Touboul, David, Giai Gianetto, Quentin, Chaze, Thibault, Matondo, Mariette, Dillies, Marie-Agnès, Cossart, Pascale

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Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis von Jabs, Sabrina, Quitsch, Arne, Käkelä, Reijo, Koch, Bettina, Tyynelä, Jaana, Brade, Helmut, Glatzel, Markus, Walkley, Steven, Saftig, Paul, Vanier, Marie T, Braulke, Thomas

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A cation counterflux supports lysosomal acidification von Steinberg, Benjamin E., Huynh, Kassidy K., Brodovitch, Alexandre, Jabs, Sabrina, Stauber, Tobias, Jentsch, Thomas J., Grinstein, Sergio

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3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3 von STELLMER, Franziska, KEYSER, Britta, GOODMAN, Stephen I, LUKACS, Zoltan, ULLRICH, Kurt, BURCKHARDT, Gerhard, BRAULKE, Thomas, MÜHLHAUSEN, Chris, BURCKHARDT, Birgitta C, KOEPSELL, Hermann, STREICHERT, Thomas, GLATZEL, Markus, JABS, Sabrina, THIEM, Joachim, HERDERING, Wilhelm, KOELLER, David M

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In vitro sulfation of N-acetyllactosaminide by soluble recombinant human β-Gal-3′-sulfotransferase von Greimel, P., Jabs, Sabrina, Storch, Stefan, Cherif, Slim, Honke, Koichi, Braulke, Thomas, Thiem, Joachim

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules von Dodd, Daniel O, Mechaussier, Sabrina, Yeyati, Patricia L, McPhie, Fraser, Anderson, Jacob R, Khoo, Chen Jing, Shoemark, Amelia, Gupta, Deepesh K, Attard, Thomas, Zariwala, Maimoona A, Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Fassad, Mahmoud R, Parry, David A, Tennant, Peter A, Meynert, Alison, Wheway, Gabrielle, Fares-Taie, Lucas, Black, Holly A, Mitri-Frangieh, Rana, Faucon, Catherine, Kaplan, Josseline, Patel, Mitali, McKie, Lisa, Megaw, Roly, Gatsogiannis, Christos, Mohamed, Mai A, Aitken, Stuart, Gautier, Philippe, Reinholt, Finn R, Hirst, Robert A, O'Callaghan, Chris, Heimdal, Ketil, Bottier, Mathieu, Escudier, Estelle, Crowley, Suzanne, Descartes, Maria, Jabs, Ethylin W, Kenia, Priti, Amiel, Jeanne, Bacci, Giacomo Maria, Calogero, Claudia, Palazzo, Viviana, Tiberi, Lucia, Blümlein, Ulrike, Rogers, Andrew, Wambach, Jennifer A, Wegner, Daniel J, Fulton, Anne B, Kenna, Margaret, Rosenfeld, Margaret, Holm, Ingrid A, Quigley, Alan, Hall, Emma A, Murphy, Laura C, Cassidy, Diane M, von Kriegsheim, Alex, Papon, Jean-François, Pasquier, Laurent, Murris, Marlène S, Chalmers, James D, Hogg, Claire, Macleod, Kenneth A, Urquhart, Don S, Unger, Stefan, Aitman, Timothy J, Amselem, Serge, Leigh, Margaret W, Knowles, Michael R, Omran, Heymut, Mitchison, Hannah M, Brown, Alan, Marsh, Joseph A, Welburn, Julie P I, Ti, Shih-Chieh, Horani, Amjad, Rozet, Jean-Michel, Perrault, Isabelle, Mill, Pleasantine

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Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public von Sanderson, Saskia C., Suckiel, Sabrina A., Zweig, Micol, Bottinger, Erwin P., Jabs, Ethylin Wang, Richardson, Lynne D.

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Kidney and liver are the main organs of expression of a key metabolic enzyme alanine:glyoxylate aminotransferase 2 in humans von Jarzebska, Natalia, Georgi, Sophia, Jabs, Normund, Brilloff, Silke, Maas, Renke, Rodionov, Roman N., Zietz, Christian, Montresor, Sabrina, Hohenstein, Bernd, Weiss, Norbert

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules von Dodd, Daniel O, Mechaussier, Sabrina, Yeyati, Patricia L, McPhie, Fraser, Anderson, Jacob R, Khoo, Chen Jing, Shoemark, Amelia, Gupta, Deepesh K, Attard, Thomas, Zariwala, Maimoona A, Legendre, Marie, Bracht, Diana, Wallmeier, Julia, Gui, Miao, Fassad, Mahmoud R, Parry, David A, Tennant, Peter A, Meynert, Alison, Wheway, Gabrielle, Fares-Taie, Lucas, Black, Holly A, Mitri-Frangieh, Rana, Faucon, Catherine, Kaplan, Josseline, Patel, Mitali, McKie, Lisa, Megaw, Roly, Gatsogiannis, Christos, Mohamed, Mai A, Aitken, Stuart, Gautier, Philippe, Reinholt, Finn R, Hirst, Robert A, O'Callaghan, Chris, Heimdal, Ketil, Bottier, Mathieu, Escudier, Estelle, Crowley, Suzanne, Descartes, Maria, Jabs, Ethylin W, Kenia, Priti, Amiel, Jeanne, Bacci, Giacomo Maria, Calogero, Claudia, Palazzo, Viviana, Tiberi, Lucia, Blümlein, Ulrike, Rogers, Andrew, Wambach, Jennifer A, Wegner, Daniel J, Fulton, Anne B, Kenna, Margaret, Rosenfeld, Margaret, Holm, Ingrid A, Quigley, Alan, Hall, Emma A, Murphy, Laura C, Cassidy, Diane M, von Kriegsheim, Alex, Scottish Genomes Partnership16, Genomics England Research Consortium45, Undiagnosed Diseases Network46, Papon, Jean-François, Pasquier, Laurent, Murris, Marlène S, Chalmers, James D, Hogg, Claire, Macleod, Kenneth A, Urquhart, Don S, Unger, Stefan, Aitman, Timothy J, Amselem, Serge, Leigh, Margaret W, Knowles, Michael R, Omran, Heymut, Mitchison, Hannah M, Brown, Alan, Marsh, Joseph A, Welburn, Julie PI, Ti, Shih-Chieh, Horani, Amjad, Rozet, Jean-Michel, Perrault, Isabelle, Mill, Pleasantine

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