Leukoencephalopathy upon disruption of the chloride channel ClC-2
Blanz, Judith, Schweizer, Michaela, Auberson, Muriel, Maier, Hannes, Muenscher, Adrian, Hübner, Christian A, Jentsch, Thomas J
Published in The Journal of neuroscience (13.06.2007)
Published in The Journal of neuroscience (13.06.2007)
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Journal Article
Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease
Peters, Judith, Rittger, Andrea, Weisner, Rebecca, Knabbe, Johannes, Zunke, Friederike, Rothaug, Michelle, Damme, Markus, Berkovic, Samuel F., Blanz, Judith, Saftig, Paul, Schwake, Michael
Published in Biochemical and biophysical research communications (13.02.2015)
Published in Biochemical and biophysical research communications (13.02.2015)
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Journal Article
Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis
Berkovic, Samuel F., Dibbens, Leanne M., Oshlack, Alicia, Silver, Jeremy D., Katerelos, Marina, Vears, Danya F., Lüllmann-Rauch, Renate, Blanz, Judith, Zhang, Ke Wei, Stankovich, Jim, Kalnins, Renate M., Dowling, John P., Andermann, Eva, Andermann, Frederick, Faldini, Enrico, D'Hooge, Rudi, Vadlamudi, Lata, Macdonell, Richard A., Hodgson, Bree L., Bayly, Marta A., Savige, Judy, Mulley, John C., Smyth, Gordon K., Power, David A., Saftig, Paul, Bahlo, Melanie
Published in American journal of human genetics (01.03.2008)
Published in American journal of human genetics (01.03.2008)
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Journal Article
Characterization of the complex formed by [Beta]-glucocerebrosidase and the lysosomal integral membrane protein type-2
Zunke, Friederike, Andresen, Lisa, Wesseler, Sophia, Groth, Johann, Arnold, Philipp, Rothaug, Michelle, Mazzulli, Joseph R, Krainc, Dimitri, Blanz, Judith, Saftig, Paul, Schwake, Michael
Published in Proceedings of the National Academy of Sciences - PNAS (05.04.2016)
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Published in Proceedings of the National Academy of Sciences - PNAS (05.04.2016)
Journal Article
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in α-mannosidosis mice
Blanz, Judith, Stroobants, Stijn, Lüllmann-Rauch, Renate, Morelle, Willy, Lüdemann, Meike, D'Hooge, Rudi, Reuterwall, Helena, Michalski, Jean Claude, Fogh, Jens, Andersson, Claes, Saftig, Paul
Published in Human molecular genetics (15.11.2008)
Published in Human molecular genetics (15.11.2008)
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Journal Article
LIMP-2 expression is critical for [Beta]-glucocerebrosidase activity and [alpha]-synuclein clearance
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
Published in Proceedings of the National Academy of Sciences - PNAS (28.10.2014)
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Published in Proceedings of the National Academy of Sciences - PNAS (28.10.2014)
Journal Article
15. Role of LAMP2 in neuronal autophagy
Blanz, Judith, Walkley, Steven U., Saftig, Paul
Published in Molecular genetics and metabolism (01.02.2009)
Published in Molecular genetics and metabolism (01.02.2009)
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Journal Article
No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy
Sepúlveda, Francisco V, Jentsch, Thomas J, Auberson, Muriel, Cid, L Pablo, Blanz, Judith, Niemeyer, María I
Published in Nature genetics (01.01.2010)
Published in Nature genetics (01.01.2010)
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Journal Article
Cerebellar Alterations and Gait Defects as Therapeutic Outcome Measures for Enzyme Replacement Therapy in α-Mannosidosis
Damme, Markus, Stroobants, Stijn, Walkley, Steven U, Lüllmann-Rauch, Renate, D'Hooge, Rudi, Fogh, Jens, Saftig, Paul, Lübke, Torben, Blanz, Judith
Published in Journal of neuropathology and experimental neurology (01.01.2011)
Published in Journal of neuropathology and experimental neurology (01.01.2011)
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Journal Article
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand -glucocerebrosidase
Blanz, Judith, Groth, Johann, Zachos, Christina, Wehling, Christina, Saftig, Paul, Schwake, Michael
Published in Human molecular genetics (15.02.2010)
Published in Human molecular genetics (15.02.2010)
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Journal Article
Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand b-glucocerebrosidase
Blanz, Judith, Groth, Johann, Zachos, Christina, Wehling, Christina, Saftig, Paul, Schwake, Michael
Published in Human molecular genetics (15.02.2010)
Published in Human molecular genetics (15.02.2010)
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Journal Article
Cerebellar Alterations and Gait Defects as Therapeutic Outcome Measures for Enzyme Replacement Therapy in [alpha]-Mannosidosis
Damme, Markus, Stroobants, Stijn, Walkley, Steven U, Lüllmann-Rauch, Renate, D'Hooge, Rudi, Fogh, Jens, Saffig, Paul, Lübke, Torben, Blanz, Judith
Published in Journal of neuropathology and experimental neurology (01.01.2011)
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Published in Journal of neuropathology and experimental neurology (01.01.2011)
Journal Article
Leukoencephalopathy upon Disruption of the Chloride Channel ClC-2
Blanz, Judith, Schweizer, Michaela, Auberson, Muriel, Maier, Hannes, Muenscher, Adrian, Hubner, Christian A, Jentsch, Thomas J
Published in The Journal of neuroscience (13.06.2007)
Published in The Journal of neuroscience (13.06.2007)
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Journal Article
Chronic enzyme replacement therapy ameliorates neuropathology in alpha‐mannosidosis mice
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
Published in Annals of clinical and translational neurology (01.11.2015)
Published in Annals of clinical and translational neurology (01.11.2015)
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Journal Article
Lysosome-Associated Membrane Proteins (LAMP) Maintain Pancreatic Acinar Cell Homeostasis: LAMP-2âDeficient Mice Develop PancreatitisSummary
Olga A. Mareninova, Matthias Sendler, Sudarshan Ravi Malla, Iskandar Yakubov, Samuel W. French, Elmira Tokhtaeva, Olga Vagin, Viola Oorschot, Renate Lüllmann-Rauch, Judith Blanz, David Dawson, Judith Klumperman, Markus M. Lerch, Julia Mayerle, Ilya Gukovsky, Anna S. Gukovskaya
Published in Cellular and molecular gastroenterology and hepatology (01.11.2015)
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Published in Cellular and molecular gastroenterology and hepatology (01.11.2015)
Journal Article
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in [alpha]-mannosidosis mice
Blanz, Judith, Stroobants, Stijn, Lüllmann-rauch, Renate, Morelle, Willy, Lüdemann, Meike, D'hooge, Rudi, Reuterwall, Helena, Michalski, Jean Claude, Fogh, Jens, Andersson, Claes, Saftig, Paul
Published in Human molecular genetics (15.11.2008)
Published in Human molecular genetics (15.11.2008)
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Journal Article
Structural Determinants of M-Type KCNQ (K sub(v)7) K super(+) Channel Assembly
Schwake, Michael, Athanasiadu, Despina, Beimgraben, Christian, Blanz, Judith, Beck, Christian, Jentsch, Thomas J, Saftig, Paul, Friedrich, Thomas
Published in The Journal of neuroscience (05.04.2006)
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Published in The Journal of neuroscience (05.04.2006)
Journal Article
Physiological Functions of the CLC Chloride Transport Proteins
Maritzen, Tanja, Blanz, Judith, Jentsch, Thomas
Published in Advances in Molecular and Cell Biology (01.01.2007)
Published in Advances in Molecular and Cell Biology (01.01.2007)
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