Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III)

Por Kowalewski, Björn, Heimann, Peter, Ortkras, Theresa, Lüllmann-Rauch, Renate, Sawada, Tomo, Walkley, Steven U., Dierks, Thomas, Damme, Markus
Publicado no Hum Mol Genet (2015)

Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis

Por Knipper, Marlies, Claussen, Cathrin, Rüttiger, Lukas, Zimmermann, Ulrike, Lüllmann-Rauch, Renate, Eskelinen, Eeva-Liisa, Schröder, Jenny, Schwake, Michael, Saftig, Paul
Publicado em 2006

Enzyme Replacement Improves Ataxic Gait and Central Nervous System Histopathology in a Mouse Model of Metachromatic Leukodystrophy

Por Matzner, Ulrich, Lüllmann-Rauch, Renate, Stroobants, Stijn, Andersson, Claes, Weigelt, Cecilia, Eistrup, Carl, Fogh, Jens, D'Hooge, Rudi, Gieselmann, Volkmar
Publicado em 2009

Cerebellar Alterations and Gait Defects as Therapeutic Outcome Measures for Enzyme Replacement Therapy in α-Mannosidosis

Por Damme, Markus, Stroobants, Stijn, Walkley, Steven U., Lüllmann-Rauch, Renate, D`Hooge, Rudi, Fogh, Jens, Saftig, Paul, Lübke, Torben, Blanz, Judith
Publicado em 2011

Deficiency of the Tetraspanin CD63 Associated with Kidney Pathology but Normal Lysosomal Function

Por Schröder, Jenny, Lüllmann-Rauch, Renate, Himmerkus, Nina, Pleines, Irina, Nieswandt, Bernhard, Orinska, Zane, Koch-Nolte, Friedrich, Schröder, Bernd, Bleich, Markus, Saftig, Paul
Publicado em 2009

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

Por Wolf, Heike, Damme, Markus, Stroobants, Stijn, D'Hooge, Rudi, Beck, Hans Christian, Hermans-Borgmeyer, Irm, Lüllmann-Rauch, Renate, Dierks, Thomas, Lübke, Torben
Publicado no Dis Model Mech (2016)

Gene therapy: prospects for glycolipid storage diseases.

Por Gieselmann, Volkmar, Matzner, Ulrich, Klein, Diana, Mansson, Jan Eric, D'Hooge, Rudi, DeDeyn, Peter D, Lüllmann Rauch, Renate, Hartmann, Dieter, Harzer, Klaus
Publicado em 2003

Induction of Tolerance to Human Arylsulfatase A in a Mouse Model of Metachromatic Leukodystrophy

Por Matzner, Ulrich, Matthes, Frank, Herbst, Eva, Lüllmann-Rauch, Renate, Callaerts-Vegh, Zsuzsanna, D’Hooge, Rudi, Weigelt, Cecilia, Eistrup, Carl, Fogh, Jens, Gieselmann, Volkmar
Publicado em 2007

The disintegrin/metalloproteinase Adam10 is essential for epidermal integrity and Notch-mediated signaling

Por Weber, Silvio, Niessen, Michaela T., Prox, Johannes, Lüllmann-Rauch, Renate, Schmitz, Annika, Schwanbeck, Ralf, Blobel, Carl P., Jorissen, Ellen, de Strooper, Bart, Niessen, Carien M., Saftig, Paul
Publicado em 2011

Myozap Deficiency Promotes Adverse Cardiac Remodeling via Differential Regulation of Mitogen-activated Protein Kinase/Serum-response Factor and β-Catenin/GSK-3β Protein Signaling

Por Rangrez, Ashraf Yusuf, Eden, Matthias, Poyanmehr, Reza, Kuhn, Christian, Stiebeling, Katharina, Dierck, Franziska, Bernt, Alexander, Lüllmann-Rauch, Renate, Weiler, Hartmut, Kirchof, Paulus, Frank, Derk, Frey, Norbert
Publicado no J Biol Chem (2016)

The intramembrane protease SPPL2a promotes B cell development and controls endosomal traffic by cleavage of the invariant chain

Por Schneppenheim, Janna, Dressel, Ralf, Hüttl, Susann, Lüllmann-Rauch, Renate, Engelke, Michael, Dittmann, Kai, Wienands, Jürgen, Eskelinen, Eeva-Liisa, Hermans-Borgmeyer, Irm, Fluhrer, Regina, Saftig, Paul, Schröder, Bernd
Publicado em 2013

Chronic enzyme replacement therapy ameliorates neuropathology in alpha‐mannosidosis mice

Por Damme, Markus, Stroobants, Stijn, Lüdemann, Meike, Rothaug, Michelle, Lüllmann‐Rauch, Renate, Beck, Hans Christian, Ericsson, Annika, Andersson, Claes, Fogh, Jens, D'Hooge, Rudi, Saftig, Paul, Blanz, Judith
Publicado no Ann Clin Transl Neurol (2015)

Disruption of the vacuolar-type H(+)-ATPase complex in liver causes MTORC1-independent accumulation of autophagic vacuoles and lysosomes

Por 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
Publicado no Autophagy (2017)

The Intramembrane Proteases Signal Peptide Peptidase-Like 2a and 2b Have Distinct Functions In Vivo

Por Schneppenheim, Janna, Hüttl, Susann, Mentrup, Torben, Lüllmann-Rauch, Renate, Rothaug, Michelle, Engelke, Michael, Dittmann, Kai, Dressel, Ralf, Araki, Masatake, Araki, Kimi, Wienands, Jürgen, Fluhrer, Regina, Saftig, Paul, Schröder, Bernd
Publicado em 2014

Disturbed Cholesterol Traffic but Normal Proteolytic Function in LAMP-1/LAMP-2 Double-deficient Fibroblasts

Por Eskelinen, Eeva-Liisa, Schmidt, Christine Katrin, Neu, Silja, Willenborg, Marion, Fuertes, Graciela, Salvador, Natalia, Tanaka, Yoshitaka, Lüllmann-Rauch, Renate, Hartmann, Dieter, Heeren, Jörg, von Figura, Kurt, Knecht, Erwin, Saftig, Paul
Publicado em 2004

Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy

Por Hess, Barbara, Saftig, Paul, Hartmann, Dieter, Coenen, Ruth, Lüllmann-Rauch, Renate, Goebel, Hans H., Evers, Meike, von Figura, Kurt, D’Hooge, Rudi, Nagels, Guy, De Deyn, Peter, Peters, Christoph, Gieselmann, Volkmar
Publicado em 1996

Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice

Por Kowalewski, Björn, Lamanna, William C., Lawrence, Roger, Damme, Markus, Stroobants, Stijn, Padva, Michael, Kalus, Ina, Frese, Marc-André, Lübke, Torben, Lüllmann-Rauch, Renate, D’Hooge, Rudi, Esko, Jeffrey D., Dierks, Thomas
Publicado em 2012

LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance

Por Rothaug, Michelle, Zunke, Friederike, Mazzulli, Joseph R., Schweizer, Michaela, Altmeppen, Hermann, Lüllmann-Rauch, Renate, Kallemeijn, Wouter W., Gaspar, Paulo, Aerts, Johannes M., Glatzel, Markus, Saftig, Paul, Krainc, Dimitri, Schwake, Michael, Blanz, Judith
Publicado em 2014

Lysosome-Associated Membrane Proteins (LAMP) Maintain Pancreatic Acinar Cell Homeostasis: LAMP-2–Deficient Mice Develop Pancreatitis

Por Mareninova, Olga A., Sendler, Matthias, Malla, Sudarshan Ravi, Yakubov, Iskandar, French, Samuel W., Tokhtaeva, Elmira, Vagin, Olga, Oorschot, Viola, Lüllmann-Rauch, Renate, Blanz, Judith, Dawson, David, Klumperman, Judith, Lerch, Markus M., Mayerle, Julia, Gukovsky, Ilya, Gukovskaya, Anna S.
Publicado no Cell Mol Gastroenterol Hepatol (2015)

A disintegrin and metalloprotease 10 (ADAM10) is a central regulator of murine liver tissue homeostasis

Por Müller, Miryam, Wetzel, Sebastian, Köhn-Gaone, Julia, Chalupsky, Karel, Lüllmann-Rauch, Renate, Barikbin, Roja, Bergmann, Juri, Wöhner, Birte, Zbodakova, Olga, Leuschner, Ivo, Martin, Gregor, Tiegs, Gisa, Rose-John, Stefan, Sedlacek, Radislav, Tirnitz-Parker, Janina E.E., Saftig, Paul, Schmidt-Arras, Dirk
Publicado no Oncotarget (2016)