Sulfatide Storage in Neurons Causes Hyperexcitability and Axonal Degeneration in a Mouse Model of Metachromatic Leukodystrophy

Por Eckhardt, Matthias, Hedayati, Kerstin Khalaj, Pitsch, Julika, Lüllmann-Rauch, Renate, Beck, Heinz, Fewou, Simon Ngamli, Gieselmann, Volkmar
Publicado no J Neurosci (2007)

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)

Neurocognitive and Psychotiform Behavioral Alterations and Enhanced Hippocampal Long-Term Potentiation in Transgenic Mice Displaying Neuropathological Features of Human α-Mannosido...

Por D'Hooge, Rudi, Lüllmann-Rauch, Renate, Beckers, Tom, Balschun, Detlef, Schwake, Michael, Reiss, Karina, von Figura, Kurt, Saftig, Paul
Publicado no J Neurosci (2005)

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

Dysbindin deficiency Alters Cardiac BLOC-1 Complex and Myozap Levels in Mice

Por Borlepawar, Ankush, Schmiedel, Nesrin, Eden, Matthias, Christen, Lynn, Rosskopf, Alexandra, Frank, Derk, Lüllmann-Rauch, Renate, Frey, Norbert, Rangrez, Ashraf Yusuf
Publicado no Cells (2020)

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

Functional characterization of the lysosomal membrane protein TMEM192 in mice

Por Nguyen, Thuy Linh, Schneppenheim, Janna, Rudnik, Sönke, Lüllmann-Rauch, Renate, Bernreuther, Christian, Hermans-Borgmeyer, Irm, Glatzel, Markus, Saftig, Paul, Schröder, Bernd
Publicado no Oncotarget (2017)

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)

Increasing Sulfatide Synthesis in Myelin-Forming Cells of Arylsulfatase A-Deficient Mice Causes Demyelination and Neurological Symptoms Reminiscent of Human Metachromatic Leukodyst...

Por Ramakrishnan, Hariharasubramanian, Hedayati, Kerstin Khalaj, Lüllmann-Rauch, Renate, Wessig, Carsten, Fewou, Simon Ngamli, Maier, Helena, Goebel, Hans-Hilmar, Gieselmann, Volkmar, Eckhardt, Matthias
Publicado no J Neurosci (2007)

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 lysosomal transporter MFSD1 is essential for liver homeostasis and critically depends on its accessory subunit GLMP

Por Massa López, David, Thelen, Melanie, Stahl, Felix, Thiel, Christian, Linhorst, Arne, Sylvester, Marc, Hermanns-Borgmeyer, Irm, Lüllmann-Rauch, Renate, Eskild, Winnie, Saftig, Paul, Damme, Markus
Publicado no eLife (2019)

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