AAAAAA

   
Results: 1-25 | 26-31
Results: 1-25/31
Disease model: LAMP-2 enlightens Danon disease
Authors: Saftig, P Tanaka, Y Lullmann-Rauch, R von Figura, K
Citation: P. Saftig et al., Disease model: LAMP-2 enlightens Danon disease, TRENDS MO M, 7(1), 2001, pp. 37-39
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency
Authors: Lubke, T Marquardt, T Etzioni, A Hartmann, E von Figura, K Korner, C
Citation: T. Lubke et al., Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency, NAT GENET, 28(1), 2001, pp. 73-76
1.3 angstrom structure of arylsulfatase from Pseudomonas aeruginosa establishes the catalytic mechanism of sulfate ester cleavage in the sulfatase family
Authors: Boltes, I Czapinska, H Kahnert, A von Bulow, R Dierks, T Schmidt, B von Figura, K Kertesz, MA Uson, I
Citation: I. Boltes et al., 1.3 angstrom structure of arylsulfatase from Pseudomonas aeruginosa establishes the catalytic mechanism of sulfate ester cleavage in the sulfatase family, STRUCTURE, 9(6), 2001, pp. 483-491
Involvement of nitric oxide released from microglia-macrophages in pathological changes of cathepsin D-deficient mice
Authors: Nakanishi, H Zhang, J Koike, M Nishioku, T Okamoto, Y Kominami, E von Figura, K Peters, C Yamamoto, K Saftig, P Uchiyama, Y
Citation: H. Nakanishi et al., Involvement of nitric oxide released from microglia-macrophages in pathological changes of cathepsin D-deficient mice, J NEUROSC, 21(19), 2001, pp. 7526-7533
Crystal structure of an enzyme-substrate complex provides insight into theinteraction between human arylsulfatase A and its substrates during catalysis
Authors: von Bulow, R Schmidt, B Dierks, T von Figura, K Uson, I
Citation: R. Von Bulow et al., Crystal structure of an enzyme-substrate complex provides insight into theinteraction between human arylsulfatase A and its substrates during catalysis, J MOL BIOL, 305(2), 2001, pp. 269-277
Binding of AP2 to sorting signals is modulated by AP2 phosphorylation
Authors: Fingerhut, A von Figura, K Honing, S
Citation: A. Fingerhut et al., Binding of AP2 to sorting signals is modulated by AP2 phosphorylation, J BIOL CHEM, 276(8), 2001, pp. 5476-5482
The dileucine motif within the tail of MPR46 is required for sorting of the receptor in endosomes
Authors: Tikkanen, R Obermuller, S Denzer, K Pungitore, R Geuze, HJ von Figura, K Honing, S
Citation: R. Tikkanen et al., The dileucine motif within the tail of MPR46 is required for sorting of the receptor in endosomes, TRAFFIC, 1(8), 2000, pp. 631-640
Identification of mutations in the arylsulfatase B gene in Russian patients with type VI mucopolysaccharidosis
Authors: Voskoboeva, EY Krasnopolskaya, XD Peters, K von Figura, K
Citation: Ey. Voskoboeva et al., Identification of mutations in the arylsulfatase B gene in Russian patients with type VI mucopolysaccharidosis, RUSS J GEN, 36(6), 2000, pp. 689-694
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG
Authors: Aebi, M Helenius, A Schenk, B Barone, R Fiumara, A Berger, EG Hennet, T Imbach, T Stutz, A Bjursell, C Uller, A Wahlstrom, JG Briones, P Cardo, E Clayton, P Winchester, B Cormier-Daire, V de Lonlay, P Cuer, M Dupre, T Seta, N de Koning, T Dorland, L de Loos, F Kupers, L Fabritz, L Hasilik, M Marquardt, T Niehues, R Freeze, H Grunewald, S Heykants, L Jaeken, J Matthijs, G Schollen, E Keir, G Kjaergaard, S Schwartz, M Skovby, F Klein, A Roussel, P Korner, C Lubke, T Thiel, C von Figura, K Koscielak, J Krasnewich, D Lehle, L Peters, V Raab, M Saether, O Schachter, H Van Schaftingen, E Verbert, A Vilaseca, A Wevers, R Yamashita, K
Citation: M. Aebi et al., Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG, GLYCOBIOLOG, 10(6), 2000, pp. III-V
Conserved cassette structure of vertebrate M-r 300 kDa mannose 6-phosphatereceptors: partial cDNA sequence of fish MPR 300
Authors: Yerramalla, UL Nadimpalli, SK Schu, P von Figura, K Hille-Rehfeld, A
Citation: Ul. Yerramalla et al., Conserved cassette structure of vertebrate M-r 300 kDa mannose 6-phosphatereceptors: partial cDNA sequence of fish MPR 300, COMP BIOC B, 127(4), 2000, pp. 433-441
Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin inmouse CNS neurons
Authors: Koike, M Nakanishi, H Saftig, P Ezaki, J Isahara, K Ohsawa, Y Schulz-Schaeffer, W Watanabe, T Waguri, S Kametaka, S Shibata, M Yamamoto, K Kominami, E Peters, C von Figura, K Uchiyama, Y
Citation: M. Koike et al., Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin inmouse CNS neurons, J NEUROSC, 20(18), 2000, pp. 6898-6906
mu 1A-adaptin-deficient mice: lethality, loss of AP-1 binding and rerouting of mannose 6-phosphate receptors
Authors: Meyer, C Zizioli, D Lausmann, S Eskelinen, EL Hamann, J Saftig, P von Figura, K Schu, P
Citation: C. Meyer et al., mu 1A-adaptin-deficient mice: lethality, loss of AP-1 binding and rerouting of mannose 6-phosphate receptors, EMBO J, 19(10), 2000, pp. 2193-2203
Congenital disorder of glycosylation-Ic: Case report and genetic defect
Authors: Hanefeld, F Korner, C Holzbach-Eberle, U von Figura, K
Citation: F. Hanefeld et al., Congenital disorder of glycosylation-Ic: Case report and genetic defect, NEUROPEDIAT, 31(2), 2000, pp. 60-62
Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficientmice
Authors: Tanaka, Y Guhde, G Suter, A Eskelinen, EL Hartmann, D Lullmann-Rauch, R Janssen, PML Blanz, J von Figura, K Saftig, P
Citation: Y. Tanaka et al., Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficientmice, NATURE, 406(6798), 2000, pp. 902-906
Endocytosis of insulin-like growth factor II by a mini-receptor based on repeat 11 of the mannose 6-phosphate/insulin-like growth factor II receptor
Authors: Grimme, S Honing, S von Figura, K Schmidt, B
Citation: S. Grimme et al., Endocytosis of insulin-like growth factor II by a mini-receptor based on repeat 11 of the mannose 6-phosphate/insulin-like growth factor II receptor, J BIOL CHEM, 275(43), 2000, pp. 33697-33703
Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis
Authors: Stinchi, S Lullmann-Rauch, R Hartmann, D Coenen, R Beccari, T Orlacchio, A von Figura, K Saftig, P
Citation: S. Stinchi et al., Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis, HUM MOL GEN, 8(8), 1999, pp. 1365-1372
Decreased availability of GDP-L-fucose in a patient with LAD II with normal GDP-D-mannose dehydratase and FX protein activities
Authors: Korner, C Linnebank, M Koch, HG Harms, E von Figura, K Marquardt, T
Citation: C. Korner et al., Decreased availability of GDP-L-fucose in a patient with LAD II with normal GDP-D-mannose dehydratase and FX protein activities, J LEUK BIOL, 66(1), 1999, pp. 95-98
Mannose 6-phosphate receptors (MPR 300 and MPR 46) from a teleostean fish (trout)
Authors: Nadimpalli, SK Yerramalla, UL Hille-Rehfeld, A von Figura, K
Citation: Sk. Nadimpalli et al., Mannose 6-phosphate receptors (MPR 300 and MPR 46) from a teleostean fish (trout), COMP BIOC B, 123(3), 1999, pp. 261-265
Phosphorylation of arylsulphatase A occurs through multiple interactions with the UDP-N-acetylglucosamine-1-phosphotransferase proximal and distal toits retrieval site by the KDEL receptor
Authors: Dittmer, F von Figura, K
Citation: F. Dittmer et K. Von Figura, Phosphorylation of arylsulphatase A occurs through multiple interactions with the UDP-N-acetylglucosamine-1-phosphotransferase proximal and distal toits retrieval site by the KDEL receptor, BIOCHEM J, 340, 1999, pp. 729-736
Sequence determinants directing conversion of cysteine to formylglycine ineukaryotic sulfatases
Authors: Dierks, T Lecca, MR Schlotterhose, P Schmidt, B von Figura, K
Citation: T. Dierks et al., Sequence determinants directing conversion of cysteine to formylglycine ineukaryotic sulfatases, EMBO J, 18(8), 1999, pp. 2084-2091
Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man : Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase
Authors: Korner, C Knauer, R Stephani, U Marquardt, T Lehle, L von Figura, K
Citation: C. Korner et al., Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man : Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase, EMBO J, 18(23), 1999, pp. 6816-6822
Identification of the putative Mannose 6-phosphate receptor protein (MPR 300) in the invertebrate unio
Authors: Lakshmi, YU Radha, Y Hille-Rehfeld, A von Figura, K Kumar, NS
Citation: Yu. Lakshmi et al., Identification of the putative Mannose 6-phosphate receptor protein (MPR 300) in the invertebrate unio, BIOSCI REP, 19(5), 1999, pp. 403-409
Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism
Authors: Marquardt, T Brune, T Luhn, K Zimmer, KP Korner, C Fabritz, L van der Werft, N Vormoor, J Freeze, HH Louwen, F Biermann, B Harms, E von Figura, K Vestweber, D Koch, HG
Citation: T. Marquardt et al., Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism, J PEDIAT, 134(6), 1999, pp. 681-688
Alternative mechanisms for trafficking of lysosomal enzymes in mannose 6-phosphate receptor-deficient mice are cell type-specific
Authors: Dittmer, F Ulbrich, EJ Hafner, A Schmahl, W Meister, T Pohlmann, R von Figura, K
Citation: F. Dittmer et al., Alternative mechanisms for trafficking of lysosomal enzymes in mannose 6-phosphate receptor-deficient mice are cell type-specific, J CELL SCI, 112(10), 1999, pp. 1591-1597
Early embryonic death of mice deficient in gamma-adaptin
Authors: Zizioli, D Meyer, C Guhde, G Saftig, P von Figura, K Schu, P
Citation: D. Zizioli et al., Early embryonic death of mice deficient in gamma-adaptin, J BIOL CHEM, 274(9), 1999, pp. 5385-5390
Risultati: 1-25 | 26-31