** = Publikationen gelistet in SCI/SSCI/Pubmed
** Weber, P; Thonhofer, M; Averill, S; Davies, GJ; Santana, AG; Müller, P; Nasseri, SA; Offen, WA; Pabst, BM; Paschke, E; Schalli, M; Torvisco, A; Tschernutter, M; Tysoe, C; Windischhofer, W; Withers, SG; Wolfsgruber, A; Wrodnigg, TM; Stütz, AE
Mechanistic Insights into the Chaperoning of Human Lysosomal-Galactosidase Activity: Highly Functionalized Aminocyclopentanes and C-5a-Substituted Derivatives of 4-epi-Isofagomine.
Molecules. 2020; 25(17):
Doi: 10.3390/molecules25174025
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** Weber, P; Nasseri, SA; Pabst, BM; Torvisco, A; Müller, P; Paschke, E; Tschernutter, M; Windischhofer, W; Withers, SG; Wrodnigg, TM; Stütz, AE
Potent GH20 N-Acetyl-β-d-hexosaminidase Inhibitors: N-Substituted 3-acetamido-4-amino-5-hydroxymethyl-cyclopentanediols.
Molecules. 2018; 23(3): 708
Doi: 10.3390/molecules23030708
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** Lebl, R; Thonhofer, M; Tysoe, C; Pabst, BM; Schalli, M; Weber, P; Paschke, E; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG
A Morita-Baylis-Hillman based route to C-5a-chain-extended 4-epi-isofagomine type glycosidase inhibitors.
Carbohydr Res. 2017; 442(15):31-40
Doi: 10.1016/j.carres.2017.03.003
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** Schalli, M; Tysoe, C; Fischer, R; Pabst, BM; Thonhofer, M; Paschke, E; Rappitsch, T; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG
N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a GM1-gangliosidosis related human lysosomal β-galactosidase mutant.
Carbohydr Res. 2017; 443-444(15):15-22
Doi: 10.1016/j.carres.2017.03.009
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** Schalli, M; Weber, P; Tysoe, C; Pabst, BM; Thonhofer, M; Paschke, E; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG
A new type of pharmacological chaperone for GM1-gangliosidosis related human lysosomal β-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols.
Bioorg Med Chem Lett. 2017; 27(15):3431-3435
Doi: 10.1016/j.bmcl.2017.05.086
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** Thonhofer, M; Weber, P; Gonzalez Santana, A; Tysoe, C; Fischer, R; Pabst, BM; Paschke, E; Schalli, M; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG
Synthesis of C-5a-substituted derivatives of 4-epi-isofagomine: notable β-galactosidase inhibitors and activity promotors of GM1-gangliosidosis related human lysosomal β-galactosidase mutant R201C.
Carbohydr Res. 2016; 429(15):71-80
Doi: 10.1016/j.carres.2016.03.020
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** Thonhofer, M; Weber, P; Santana, AG; Fischer, R; Pabst, BM; Paschke, E; Schalli, M; Stütz, AE; Tschernutter, M; Windischhofer, W; Withers, SG
Synthesis of C-5a-chain extended derivatives of 4-epi-isofagomine: Powerful β-galactosidase inhibitors and low concentration activators of GM1-gangliosidosis-related human lysosomal β-galactosidase.
Bioorg Med Chem Lett. 2016; 26(5):1438-1442
Doi: 10.1016/j.bmcl.2016.01.059
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** Bennett, KL; Funk, M; Tschernutter, M; Breitwieser, FP; Planyavsky, M; Ubaida Mohien, C; Müller, A; Trajanoski, Z; Colinge, J; Superti-Furga, G; Schmidt-Erfurth, U
Proteomic analysis of human cataract aqueous humour: Comparison of one-dimensional gel LCMS with two-dimensional LCMS of unlabelled and iTRAQ®-labelled specimens.
J Proteomics. 2011; 74(2): 151-166.
Doi: 10.1016/j.jprot.2010.10.002
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** Georgiadis, A; Tschernutter, M; Bainbridge, JW; Balaggan, KS; Mowat, F; West, EL; Munro, PM; Thrasher, AJ; Matter, K; Balda, MS; Ali, RR
The tight junction associated signalling proteins ZO-1 and ZONAB regulate retinal pigment epithelium homeostasis in mice.
PLoS One. 2010; 5(12): e15730-e15730.
Doi: 10.1371/journal.pone.0015730
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** Georgiadis, A; Tschernutter, M; Bainbridge, JW; Robbie, SJ; McIntosh, J; Nathwani, AC; Smith, AJ; Ali, RR
AAV-mediated knockdown of peripherin-2 in vivo using miRNA-based hairpins.
Gene Ther. 2010; 17(4): 486-493.
Doi: 10.1038/gt.2009.162
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** Böhm-Hofstätter, H; Tschernutter, M; Kunert, R
Comparison of hybridization methods and real-time PCR: their value in animal cell line characterization.
Appl Microbiol Biotechnol. 2010; 87(2): 419-425.
Doi: 10.1007/s00253-010-2580-9
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** West, EL; Pearson, RA; Tschernutter, M; Sowden, JC; MacLaren, RE; Ali, RR
Pharmacological disruption of the outer limiting membrane leads to increased retinal integration of transplanted photoreceptor precursors.
Exp Eye Res. 2008; 86(4): 601-611.
Doi: 10.1016/j.exer.2008.01.004
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** Balaggan, KS; Binley, K; Esapa, M; Iqball, S; Askham, Z; Kan, O; Tschernutter, M; Bainbridge, JW; Naylor, S; Ali, RR
Stable and efficient intraocular gene transfer using pseudotyped EIAV lentiviral vectors.
J Gene Med. 2006; 8(3): 275-285.
Doi: 10.1002/jgm.845
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** Tschernutter, M; Jenkins, SA; Waseem, NH; Saihan, Z; Holder, GE; Bird, AC; Bhattacharya, SS; Ali, RR; Webster, AR
Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.
Br J Ophthalmol. 2006; 90(6): 718-723.
Doi: 10.1136/bjo.2005.084897
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** Tschernutter, M; Schlichtenbrede, FC; Howe, S; Balaggan, KS; Munro, PM; Bainbridge, JW; Thrasher, AJ; Smith, AJ; Ali, RR
Long-term preservation of retinal function in the RCS rat model of retinitis pigmentosa following lentivirus-mediated gene therapy.
Gene Ther. 2005; 12(8): 694-701.
Doi: 10.1038/sj.gt.3302460
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** Schlichtenbrede, FC; MacNeil, A; Bainbridge, JW; Tschernutter, M; Thrasher, AJ; Smith, AJ; Ali, RR
Intraocular gene delivery of ciliary neurotrophic factor results in significant loss of retinal function in normal mice and in the Prph2Rd2/Rd2 model of retinal degeneration.
Gene Ther. 2003; 10(6):523-527
Doi: 10.1038/sj.gt.3301929
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** Smith, AJ; Schlichtenbrede, FC; Tschernutter, M; Bainbridge, JW; Thrasher, AJ; Ali, RR
AAV-Mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa.
Mol Ther. 2003; 8(2):188-195
Doi: 10.1016/S1525-0016(03)00144-8
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