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Results: 1-10 |
Results: 10
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation
Authors: Hulkova, H Cervenkova, M Ledvinova, J Tochackova, M Hrebicek, M Poupetova, H Befekadu, A Berna, L Paton, BC Harzer, K Boor, A Smid, F Elleder, M
Citation: H. Hulkova et al., A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation, HUM MOL GEN, 10(9), 2001, pp. 927-940
The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cells
Authors: Burek, C Roth, J Koch, HG Harzer, K Los, M Schulze-Osthoff, K
Citation: C. Burek et al., The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cells, ONCOGENE, 20(45), 2001, pp. 6493-6502
On the role of peripheral macrophages during active experimental allergic encephalomyelitis (EAE)
Authors: Imrich, H Harzer, K
Citation: H. Imrich et K. Harzer, On the role of peripheral macrophages during active experimental allergic encephalomyelitis (EAE), J NEURAL TR, 108(4), 2001, pp. 379-395
Saposins (sap) A and C activate the degradation of galactosylsphingosine
Authors: Harzer, K Hiraiwa, M Paton, BC
Citation: K. Harzer et al., Saposins (sap) A and C activate the degradation of galactosylsphingosine, FEBS LETTER, 508(1), 2001, pp. 107-110
Quantified increases of cholesterol, total lipid and globotriaosylceramidein filipin-positive Niemann-Pick type C fibroblasts
Authors: Harzer, K Kustermann-Kuhn, B
Citation: K. Harzer et B. Kustermann-kuhn, Quantified increases of cholesterol, total lipid and globotriaosylceramidein filipin-positive Niemann-Pick type C fibroblasts, CLIN CHIM A, 305(1-2), 2001, pp. 65-73
Niemann-Pick C1 disease: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop
Authors: Millat, G Marcais, C Tomasetto, C Chikh, K Fensom, AH Harzer, K Wenger, DA Ohno, K Vanier, MT
Citation: G. Millat et al., Niemann-Pick C1 disease: Correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop, AM J HU GEN, 68(6), 2001, pp. 1373-1385
Deficient ferritin immunoreactivity in tissues from Niemann-Pick type C patients: Extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group
Authors: Christomanou, H Vanier, MT Santambrogio, P Arosio, P Kleijer, WJ Harzer, K
Citation: H. Christomanou et al., Deficient ferritin immunoreactivity in tissues from Niemann-Pick type C patients: Extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group, MOL GEN MET, 70(3), 2000, pp. 196-202
Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector
Authors: Matzner, U Harzer, K Learish, RD Barranger, JA Gieselmann, V
Citation: U. Matzner et al., Long-term expression and transfer of arylsulfatase A into brain of arylsulfatase A-deficient mice transplanted with bone marrow expressing the arylsulfatase A cDNA from a retroviral vector, GENE THER, 7(14), 2000, pp. 1250-1257
Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase-1 exon 8 splice junction mutation
Authors: vom Dahl, S Harzer, K Rolfs, A Albrecht, B Niederau, C Vogt, C van Weely, S Aerts, J Muller, G Haussinger, D
Citation: S. Vom Dahl et al., Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase-1 exon 8 splice junction mutation, J HEPATOL, 31(4), 1999, pp. 741-746
Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation)
Authors: Zimmer, KP Le Coutre, P Aerts, HMFG Harzer, K Fukuda, M O'Brien, JS Naim, HY
Citation: Kp. Zimmer et al., Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation), J PATHOLOGY, 188(4), 1999, pp. 407-414
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