Search Results - "Von Figura, Kurt"

Heparan sulfate 6-O-endosulfatases: discrete in vivo activities and functional co-operativity by Lamanna, William C, Baldwin, Rebecca J, Padva, Michael, Kalus, Ina, Ten Dam, Gerdy, van Kuppevelt, Toin H, Gallagher, John T, von Figura, Kurt, Dierks, Thomas, Merry, Catherine L R

“…HS (heparan sulfate) is essential for normal embryonic development. This requirement is due to the obligatory role for HS in the signalling pathways of many…”
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Involvement of two different cell death pathways in retinal atrophy of cathepsin D-deficient mice by Koike, Masato, Shibata, Masahiro, Ohsawa, Yoshiyuki, Nakanishi, Hiroshi, Koga, Tomoyuki, Kametaka, Satoshi, Waguri, Satoshi, Momoi, Takashi, Kominami, Eiki, Peters, Christoph, Figura, Kurt von, Saftig, Paul, Uchiyama, Yasuo

“…To understand the mechanisms of retinal atrophy in cathepsin D-deficient mice, the postnatal development of their retinae was analyzed. TUNEL-positive cells…”
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Mannose 6-phosphate receptors, Niemann-Pick C2 protein, and lysosomal cholesterol accumulation by Willenborg, Marion, Schmidt, Christine Kathrin, Braun, Peter, Landgrebe, Jobst, Figura, Kurt von, Saftig, Paul, Eskelinen, Eeva-Liisa

“…Niemann-Pick disease type C (NPC), caused by mutations in the NPC1 gene or the NPC2 gene, is characterized by the accumulation of unesterified cholesterol and…”
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Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig by Thiel, Christian, Schwarz, Markus, Hasilik, Martin, Grieben, Ulrike, Hanefeld, Folker, Lehle, Ludwig, von Figura, Kurt, Körner, Christian

“…Deficiency of the endoplasmic reticulum enzyme dolichyl-phosphate mannose (Dol-P-Man):Man(7)GlcNAc(2)-PP-dolichyl mannosyltransferase leads to a new type of…”
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Alternative mechanisms for trafficking of lysosomal enzymes in mannose 6-phosphate receptor-deficient mice are cell type-specific by Dittmer, F, Ulbrich, E J, Hafner, A, Schmahl, W, Meister, T, Pohlmann, R, von Figura, K

“…Viable mice nullizygous in genes encoding the 300 kDa and the 46 kDa mannose 6-phosphate receptors (MPR 300 and MPR 46) and the insulin like growth factor II…”
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Phenotype of Arylsulfatase A-Deficient Mice: Relationship to Human Metachromatic Leukodystrophy by Hess, Barbara, Saftig, Paul, Hartmann, Dieter, Coenen, Ruth, Lullmann-Rauch, Renate, Goebel, Hans H., Evers, Meike, Von Figura, Kurt, D'Hooge, Rudi, Nagels, Guy, De Deyn, Peter, Peters, Christoph, Gieselmann, Volkmar

“…Metachromatic leukodystrophy is a lysosomal sphingolipid storage disorder caused by the deficiency of arylsulfatase A. The disease is characterized by…”
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Participation of Autophagy in Storage of Lysosomes in Neurons from Mouse Models of Neuronal Ceroid-Lipofuscinoses (Batten Disease) by Koike, Masato, Shibata, Masahiro, Waguri, Satoshi, Yoshimura, Kentaro, Tanida, Isei, Kominami, Eiki, Gotow, Takahiro, Peters, Christoph, von Figura, Kurt, Mizushima, Noboru, Saftig, Paul, Uchiyama, Yasuo

“…In cathepsin D-deficient (CD−/−) and cathepsins B and L double-deficient (CB−/−CL−/−) mice, abnormal vacuolar structures accumulate in neurons of the brains…”
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Differential involvement of the extracellular 6‐O‐endosulfatases Sulf1 and Sulf2 in brain development and neuronal and behavioural plasticity by Kalus, Ina, Salmen, Benedikt, Viebahn, Christoph, Figura, Kurt von, Schmitz, Dietmar, D'Hooge, Rudi, Dierks, Thomas

“…The extracellular sulfatases Sulf1 and Sulf2 remove specific 6‐O‐sulfate groups from heparan sulfate, thereby modulating numerous signalling pathways…”
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Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins by Dierks, Thomas, Schlotawa, Lars, Frese, Marc-André, Radhakrishnan, Karthikeyan, von Figura, Kurt, Schmidt, Bernhard

“…Multiple sulfatase deficiency (MSD), mucolipidosis (ML) II/III and Niemann–Pick type C1 (NPC1) disease are rare but fatal lysosomal storage disorders caused by…”
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Thyroid functions of mouse cathepsins B, K, and L by Friedrichs, Bianca, Tepel, Carmen, Reinheckel, Thomas, Deussing, Jan, von Figura, Kurt, Herzog, Volker, Peters, Christoph, Saftig, Paul, Brix, Klaudia

“…Thyroid function depends on processing of the prohormone thyroglobulin by sequential proteolytic events. From in vitro analysis it is known that cysteine…”
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Molecular Basis for Multiple Sulfatase Deficiency and Mechanism for Formylglycine Generation of the Human Formylglycine-Generating Enzyme by Dierks, Thomas, Dickmanns, Achim, Preusser-Kunze, Andrea, Schmidt, Bernhard, Mariappan, Malaiyalam, von Figura, Kurt, Ficner, Ralf, Rudolph, Markus Georg

“…Sulfatases are enzymes essential for degradation and remodeling of sulfate esters. Formylglycine (FGly), the key catalytic residue in the active site, is…”
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Role of LAMP-2 in lysosome biogenesis and autophagy by Eskelinen, Eeva-Liisa, Illert, Anna Lena, Tanaka, Yoshitaka, Schwarzmann, Günter, Blanz, Judith, Von Figura, Kurt, Saftig, Paul

“…In LAMP-2-deficient mice autophagic vacuoles accumulate in many tissues, including liver, pancreas, muscle, and heart. Here we extend the phenotype analysis…”
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Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice by Saftig, Paul, Tanaka, Yoshitaka, Guhde, Gundula, Suter, Anke, Eskelinen, Eeva-Liisa, Hartmann, Dieter, Lüllmann-Rauch, Renate, Janssen, Paul M. L, Blanz, Judith, von Figura, Kurt

“…Lysosome-associated membrane protein-2 (LAMP-2) is a highly glycosylated protein and an important constituent of the lysosomal membrane. Here we show that…”
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Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein by De Strooper, Bart, Saftig, Paul, Craessaerts, Katleen, Vanderstichele, Hugo, Guhde, Gundula, Annaert, Wim, Von Figura, Kurt, Van Leuven, Fred

“…Point mutations in the presenilin-1 gene (PS1) are a major cause of familial Alzheimer's disease. They result in a selective increase in the production of the…”
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Phosphorylation of the AP2 μ Subunit by AAK1 Mediates High Affinity Binding to Membrane Protein Sorting Signals by Ricotta, Doris, Conner, Sean D., Schmid, Sandra L., von Figura, Kurt, Höning, Stefan

“…During receptor-mediated endocytosis, AP2 complexes act as a bridge between the cargo membrane proteins and the clathrin coat by binding to sorting signals via…”
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Impaired Osteoclastic Bone Resorption Leads to Osteopetrosis in Cathepsin-K-Deficient Mice by Saftig, Paul, Hunziker, Ernst, Wehmeyer, Olaf, Jones, Sheila, Boyde, Alan, Rommerskirch, Winfried, Moritz, Jorg Detlev, Schu, Peter, Von Figura, Kurt

“…Cathepsin K is a recently identified lysosomal cysteine proteinase. It is abundant in osteoclasts, where it is believed to play a vital role in the resorption…”
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Disturbed cholesterol traffic but normal proteolytic function in LAMP-1/LAMP-2 double-deficient fibroblasts by 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

“…Mice double deficient in LAMP-1 and -2 were generated. The embryos died between embryonic days 14.5 and 16.5. An accumulation of autophagic vacuoles was…”
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Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency by Körner, Christian, Lübke, Torben, Marquardt, Thorsten, Etzioni, Amos, Hartmann, Enno, von Figura, Kurt

“…Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of inherited disorders in which glycosylation of glycoproteins is defective due to…”
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μ1A-adaptin-deficient mice: lethality, loss of AP-1 binding and rerouting of mannose 6-phosphate receptors by Meyer, Christoph, Zizioli, Daniela, Lausmann, Susanne, Eskelinen, Eeva-Liisa, Hamann, Jens, Saftig, Paul, von Figura, Kurt, Schu, Peter

“…The heterotetrameric AP‐1 complex is involved in the formation of clathrin‐coated vesicles at the trans‐Golgi network (TGN) and interacts with sorting signals…”
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Thyroid functions of mouse cathepsins B, K, and L by Friedrichs, Bianca, Tepel, Carmen, Reinheckel, Thomas, Deussing, Jan, von Figura, Kurt, Herzog, Volker, Peters, Christoph, Saftig, Paul, Brix, Klaudia

“…Thyroid function depends on processing of the prohormone thyroglobulin by sequential proteolytic events. From in vitro analysis it is known that cysteine…”
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