Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
8 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
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 May;35(3):495-503. doi: 10.1007/s10545-011-9409-2. Epub 2011 Oct 28.
J Inherit Metab Dis. 2012.
PMID: 22033734
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hofer D, Paul K, Fantur K, Beck M, Bürger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E.
Hofer D, et al.
Hum Mutat. 2009 Aug;30(8):1214-21. doi: 10.1002/humu.21031.
Hum Mutat. 2009.
PMID: 19472408
Item in Clipboard
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.
Fantur K, Hofer D, Schitter G, Steiner AJ, Pabst BM, Wrodnigg TM, Stütz AE, Paschke E.
Fantur K, et al.
Mol Genet Metab. 2010 Jul;100(3):262-8. doi: 10.1016/j.ymgme.2010.03.019. Epub 2010 Mar 28.
Mol Genet Metab. 2010.
PMID: 20409738
Item in Clipboard
Fluorous iminoalditols: a new family of glycosidase inhibitors and pharmacological chaperones.
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, Stütz AE, Wrodnigg TM.
Schitter G, et al.
Chembiochem. 2010 Sep 24;11(14):2026-33. doi: 10.1002/cbic.201000192.
Chembiochem. 2010.
PMID: 20715263
Free PMC article.
Item in Clipboard
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko B, Paschke E.
Hofer D, et al.
Clin Genet. 2010 Sep;78(3):236-46. doi: 10.1111/j.1399-0004.2010.01379.x. Epub 2010 Feb 11.
Clin Genet. 2010.
PMID: 20175788
Item in Clipboard
1-Deoxygalactonojirimycin-lysine hybrids as potent D-galactosidase inhibitors.
Steiner AJ, Schitter G, Stütz AE, Wrodnigg TM, Tarling CA, Withers SG, Fantur K, Mahuran D, Paschke E, Tropak M.
Steiner AJ, et al.
Bioorg Med Chem. 2008 Dec 15;16(24):10216-20. doi: 10.1016/j.bmc.2008.10.054. Epub 2008 Oct 26.
Bioorg Med Chem. 2008.
PMID: 18996021
Free PMC article.
Item in Clipboard
Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors.
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.
Schitter G, et al.
Beilstein J Org Chem. 2010 Mar 1;6:21. doi: 10.3762/bjoc.6.21.
Beilstein J Org Chem. 2010.
PMID: 20502610
Free PMC article.
Item in Clipboard
A fluorescent probe for GM1 gangliosidosis related β-galactosidase: N-(dansylamino)hexylaminocarbonylpentyl-1,5-dideoxy-1,5-imino-D-galactitol.
Fröhlich RF, Fantur K, Furneaux RH, Paschke E, Stütz AE, Wicki J, Withers SG, Wrodnigg TM.
Fröhlich RF, et al.
Bioorg Med Chem Lett. 2011 Nov 15;21(22):6872-5. doi: 10.1016/j.bmcl.2011.09.012. Epub 2011 Sep 10.
Bioorg Med Chem Lett. 2011.
PMID: 21974950
Item in Clipboard
Cite
Cite