** = Publikationen gelistet in SCI/SSCI/Pubmed
** Fantur, KM; Wrodnigg, TM; Stütz, AE; Pabst, BM; Paschke, E
Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.
J Inherit Metab Dis. 2012; 35(3):495-503
Doi: 10.1007/s10545-011-9409-2
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** Fröhlich, RF; Fantur, K; Furneaux, RH; Paschke, E; Stütz, AE; Wicki, J; Withers, SG; Wrodnigg, TM
A fluorescent probe for GM1 gangliosidosis related â-galactosidase: N-(dansylamino)hexylaminocarbonylpentyl-1,5-dideoxy-1,5-imino-D-galactitol.
Bioorg Med Chem Lett. 2011; 21(22):6872-6875
Doi: 10.1016/j.bmcl.2011.09.012
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** Fantur, K; Hofer, D; Schitter, G; Steiner, AJ; Pabst, BM; Wrodnigg, TM; Stütz, AE; Paschke, E
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.
Mol Genet Metab. 2010; 100(3):262-268
Doi: 10.1016/j.ymgme.2010.03.019
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** Hofer, D; Paul, K; Fantur, K; Beck, M; Roubergue, A; Vellodi, A; Poorthuis, BJ; Michelakakis, H; Plecko, B; Paschke, E
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Clin Genet. 2010; 78(3):236-246
Doi: 10.1111/j.1399-0004.2010.01379.x
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** Schitter, G; Scheucher, E; Steiner, AJ; Stütz, AE; Thonhofer, M; Tarling, CA; Withers, SG; Wicki, J; Fantur, K; Paschke, E; Mahuran, DJ; Rigat, BA; Tropak, M; Wrodnigg, TM
Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors.
Beilstein J Org Chem. 2010; 6(2):21-21
Doi: 10.3762/bjoc.6.21
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** Schitter, G; Steiner, AJ; Pototschnig, G; Scheucher, E; Thonhofer, M; Tarling, CA; Withers, SG; Fantur, K; Paschke, E; Mahuran, DJ; Rigat, BA; Tropak, MB; Illaszewicz, C; Saf, R; Stutz, AE; Wrodnigg, TM
Fluorous iminoalditols: a new family of glycosidase inhibitors and pharmacological chaperones.
Chembiochem. 2010; 11(14):2026-2033
Doi: 10.1002/cbic.201000192
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** Hofer, D; Paul, K; Fantur, K; Beck, M; Burger, F; Caillaud, C; Fumic, K; Ledvinova, J; Lugowska, A; Michelakakis, H; Radeva, B; Ramaswami, U; Plecko, B; Paschke, E
GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid beta-Galactosidase
HUM MUTAT. 2009; 30(8): 1214-1221.
Doi: 10.1002/humu.21031
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** Steiner, AJ; Schitter, G; Stütz, AE; Wrodnigg, TM; Tarling, CA; Withers, SG; Fantur, K; Mahuran, D; Paschke, E; Tropak, M
1-Deoxygalactonojirimycin-lysine hybrids as potent D-galactosidase inhibitors.
Bioorg Med Chem. 2008; 16(24):10216-10220
Doi: 10.1016/j.bmc.2008.10.054
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