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Labor für retinale Gentherapie

Publikation

1. Alexander, S. P., E. Kelly, N. Marrion, J. A. Peters, H. E. Benson, E. Faccenda, A. J. Pawson, J. L. Sharman, C. Southan, O. P. Buneman, W. A. Catterall, J. A. Cidlowski, A. P. Davenport, D. Fabbro, G. Fan, J. C. McGrath, M. Spedding, J. A. Davies and C. Collaborators (2015). "The Concise Guide to PHARMACOLOGY 2015/16: Overview." Br J Pharmacol 172(24): 5729-5743.

2. Alexander, S. P., E. Kelly, N. V. Marrion, J. A. Peters, E. Faccenda, S. D. Harding, A. J. Pawson, J. L. Sharman, C. Southan, O. P. Buneman, J. A. Cidlowski, A. Christopoulos, A. P. Davenport, D. Fabbro, M. Spedding, J. Striessnig, J. A. Davies and C. Collaborators (2017). "THE CONCISE GUIDE TO PHARMACOLOGY 2017/18: Overview." Br J Pharmacol 174 Suppl 1: S1-S16.

3. Alexander, S. P., A. Mathie, J. A. Peters, E. L. Veale, J. Striessnig, E. Kelly, J. F. Armstrong, E. Faccenda, S. D. Harding, A. J. Pawson, C. Southan, J. A. Davies, R. W. Aldrich, B. Attali, A. M. Baggetta, E. Becirovic, M. Biel, R. M. Bill, W. A. Catterall, A. C. Conner, P. Davies, M. Delling, F. D. Virgilio, S. Falzoni, S. Fenske, C. George, S. A. N. Goldstein, S. Grissmer, K. Ha, V. Hammelmann, I. Hanukoglu, M. Jarvis, A. A. Jensen, L. K. Kaczmarek, S. Kellenberger, C. Kennedy, B. King, P. Kitchen, J. W. Lynch, E. Perez-Reyes, L. D. Plant, L. Rash, D. Ren, M. M. Salman, L. G. Sivilotti, T. G. Smart, T. P. Snutch, J. Tian, J. S. Trimmer, C. Van den Eynde, J. Vriens, A. D. Wei, B. T. Winn, H. Wulff, H. Xu, L. Yue, X. Zhang and M. Zhu (2021). "THE CONCISE GUIDE TO PHARMACOLOGY 2021/22: Ion channels." Br J Pharmacol 178 Suppl 1: S157-S245.

4. Becirovic, E. (2022). "Maybe you can turn me on: CRISPRa-based strategies for therapeutic applications." Cell Mol Life Sci 79(2): 130.

5. Becirovic, E., S. Bohm, O. N. Nguyen, L. M. Riedmayr, V. Hammelmann, C. Schon, E. S. Butz, C. Wahl-Schott, M. Biel and S. Michalakis (2016). "AAV Vectors for FRET-Based Analysis of Protein-Protein Interactions in Photoreceptor Outer Segments." Front Neurosci 10: 356.

6. Becirovic, E., S. Bohm, O. N. Nguyen, L. M. Riedmayr, M. A. Koch, E. Schulze, S. Kohl, O. Borsch, T. Santos-Ferreira, M. Ader, S. Michalakis and M. Biel (2016). "In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors." PLoS Genet 12(1): e1005811.

7. Becirovic, E., I. Ebermann, D. Nagy, E. Zrenner, M. W. Seeliger and H. J. Bolz (2008). "Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing." Hum Mutat 29(3): 452.

8. Becirovic, E., K. Nakova, V. Hammelmann, R. Hennel, M. Biel and S. Michalakis (2010). "The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32." PLoS One 5(1): e8969.

9. Becirovic, E., O. N. Nguyen, C. Paparizos, E. S. Butz, G. Stern-Schneider, U. Wolfrum, S. M. Hauck, M. Ueffing, C. Wahl-Schott, S. Michalakis and M. Biel (2014). "Peripherin-2 couples rhodopsin to the CNG channel in outer segments of rod photoreceptors." Hum Mol Genet 23(22): 5989-5997.

10. Bohm, S., L. M. Riedmayr, O. N. P. Nguyen, A. Giessl, T. Liebscher, E. S. Butz, C. Schon, S. Michalakis, C. Wahl-Schott, M. Biel and E. Becirovic (2017). "Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants." Sci Rep 7(1): 2321.

11. Bohm, S., V. Splith, L. M. Riedmayr, R. D. Rotzer, G. Gasparoni, K. J. V. Nordstrom, J. E. Wagner, K. S. Hinrichsmeyer, J. Walter, C. Wahl-Schott, S. Fenske, M. Biel, S. Michalakis and E. Becirovic (2020). "A gene therapy for inherited blindness using dCas9-VPR-mediated transcriptional activation." Sci Adv 6(34): eaba5614.

12. Burkard, M., S. Kohl, T. Kratzig, N. Tanimoto, C. Brennenstuhl, A. E. Bausch, K. Junger, P. Reuter, V. Sothilingam, S. C. Beck, G. Huber, X. Q. Ding, A. K. Mayer, B. Baumann, N. Weisschuh, D. Zobor, G. A. Hahn, U. Kellner, S. Venturelli, E. Becirovic, P. Charbel Issa, R. K. Koenekoop, G. Rudolph, J. Heckenlively, P. Sieving, R. G. Weleber, C. Hamel, X. Zong, M. Biel, R. Lukowski, M. W. Seeliger, S. Michalakis, B. Wissinger and P. Ruth (2018). "Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy." J Clin Invest 128(12): 5663-5675.

13. Ebermann, I., H. P. Scholl, P. Charbel Issa, E. Becirovic, J. Lamprecht, B. Jurklies, J. M. Millan, E. Aller, D. Mitter and H. Bolz (2007). "A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss." Hum Genet 121(2): 203-211.

14. Falk, N., K. Kessler, S. F. Schramm, K. Boldt, E. Becirovic, S. Michalakis, H. Regus-Leidig, A. A. Noegel, M. Ueffing, C. T. Thiel, R. Roepman, J. H. Brandstatter and A. Giessl (2018). "Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis." J Cell Sci 131(16).

15. Fenske, S., K. Hennis, R. D. Rotzer, V. F. Brox, E. Becirovic, A. Scharr, C. Gruner, T. Ziegler, V. Mehlfeld, J. Brennan, I. R. Efimov, A. G. Pauza, M. Moser, C. T. Wotjak, C. Kupatt, R. Gonner, R. Zhang, H. Zhang, X. Zong, M. Biel and C. Wahl-Schott (2020). "cAMP-dependent regulation of HCN4 controls the tonic entrainment process in sinoatrial node pacemaker cells." Nat Commun 11(1): 5555.

16. Fenske, S., S. C. Krause, S. I. Hassan, E. Becirovic, F. Auer, R. Bernard, C. Kupatt, P. Lange, T. Ziegler, C. T. Wotjak, H. Zhang, V. Hammelmann, C. Paparizos, M. Biel and C. A. Wahl-Schott (2013). "Sick sinus syndrome in HCN1-deficient mice." Circulation 128(24): 2585-2594.

17. Kallenborn-Gerhardt, W., K. Metzner, R. Lu, J. Petersen, M. S. Kuth, S. Heine, O. Drees, M. Paul, E. Becirovic, L. Kennel, C. Flauaus, T. Gross, G. Wack, S. W. Hohmann, D. Nemirovski, D. Del Turco, M. Biel, G. Geisslinger, S. Michalakis and A. Schmidtko (2020). "Neuropathic and cAMP-induced pain behavior is ameliorated in mice lacking CNGB1." Neuropharmacology: 108087.

18. Khan, A. O.*, E. Becirovic*, C. Betz, C. Neuhaus, J. Altmuller, L. Maria Riedmayr, S. Motameny, G. Nurnberg, P. Nurnberg and H. J. Bolz (2017). "A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula." Sci Rep 7(1): 1411.

19. Koch, S., V. Sothilingam, M. Garcia Garrido, N. Tanimoto, E. Becirovic, F. Koch, C. Seide, S. C. Beck, M. W. Seeliger, M. Biel, R. Muhlfriedel and S. Michalakis (2012). "Gene therapy restores vision and delays degeneration in the CNGB1(-/-) mouse model of retinitis pigmentosa." Hum Mol Genet 21(20): 4486-4496.

20. Michalakis, S., E. Becirovic and M. Biel (2018). "Retinal Cyclic Nucleotide-Gated Channels: From Pathophysiology to Therapy." Int J Mol Sci 19(3).

21. Michalakis, S., T. Kleppisch, S. A. Polta, C. T. Wotjak, S. Koch, G. Rammes, L. Matt, E. Becirovic and M. Biel (2011). "Altered synaptic plasticity and behavioral abnormalities in CNGA3-deficient mice." Genes Brain Behav 10(2): 137-148.

22. Michalakis, S., S. Koch, V. Sothilingam, M. Garcia Garrido, N. Tanimoto, E. Schulze, E. Becirovic, F. Koch, C. Seide, S. C. Beck, M. W. Seeliger, R. Muhlfriedel and M. Biel (2014). "Gene therapy restores vision and delays degeneration in the CNGB1(-/-) mouse model of retinitis pigmentosa." Adv Exp Med Biol 801: 733-739.

23. Michalakis, S., R. Muhlfriedel, N. Tanimoto, V. Krishnamoorthy, S. Koch, M. D. Fischer, E. Becirovic, L. Bai, G. Huber, S. C. Beck, E. Fahl, H. Buning, F. Paquet-Durand, X. Zong, T. Gollisch, M. Biel and M. W. Seeliger (2010). "Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function." Mol Ther 18(12): 2057-2063.

24. Michalakis, S., R. Muhlfriedel, N. Tanimoto, V. Krishnamoorthy, S. Koch, M. D. Fischer, E. Becirovic, L. Bai, G. Huber, S. C. Beck, E. Fahl, H. Buning, J. Schmidt, X. Zong, T. Gollisch, M. Biel and M. W. Seeliger (2012). "Gene therapy restores missing cone-mediated vision in the CNGA3-/- mouse model of achromatopsia." Adv Exp Med Biol 723: 183-189.

25. Michalakis, S., C. Schon, E. Becirovic and M. Biel (2017). "Gene therapy for achromatopsia." J Gene Med 19(3).

26. Michalakis, S*., X. Zong*, E. Becirovic*, V. Hammelmann, T. Wein, K. T. Wanner and M. Biel (2011). "The glutamic acid-rich protein is a gating inhibitor of cyclic nucleotide-gated channels." J Neurosci 31(1): 133-141.

27. Nguyen, O. N., S. Bohm, A. Giessl, E. S. Butz, U. Wolfrum, J. H. Brandstatter, C. Wahl-Schott, M. Biel and E. Becirovic (2016). "Peripherin-2 differentially interacts with cone opsins in outer segments of cone photoreceptors." Hum Mol Genet 25(12): 2367-2377.

28. Panagiotopoulos, A. L., N. Karguth, M. Pavlou, S. Bohm, G. Gasparoni, J. Walter, A. Graf, H. Blum, M. Biel, L. M. Riedmayr and E. Becirovic (2020). "Antisense Oligonucleotide- and CRISPR-Cas9-Mediated Rescue of mRNA Splicing for a Deep Intronic CLRN1 Mutation." Mol Ther Nucleic Acids 21: 1050-1061.

29. Paquet-Durand, F., S. Beck, S. Michalakis, T. Goldmann, G. Huber, R. Muhlfriedel, D. Trifunovic, M. D. Fischer, E. Fahl, G. Duetsch, E. Becirovic, U. Wolfrum, T. van Veen, M. Biel, N. Tanimoto and M. W. Seeliger (2011). "A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa." Hum Mol Genet 20(5): 941-947.

30. Petersen-Jones, S. M., L. M. Occelli, P. A. Winkler, W. Lee, J. R. Sparrow, M. Tsukikawa, S. L. Boye, V. Chiodo, J. E. Capasso, E. Becirovic, C. Schon, M. W. Seeliger, A. V. Levin, S. Michalakis, W. W. Hauswirth and S. H. Tsang (2018). "Patients and animal models of CNGbeta1-deficient retinitis pigmentosa support gene augmentation approach." J Clin Invest 128(1): 190-206.

31. Riedmayr, L. M., S. Bohm, M. Biel and E. Becirovic (2020). "Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site." Hum Mol Genet 29(2): 295-304.

32. Riedmayr, L. M., K. S. Hinrichsmeyer, N. Karguth, S. Bohm, V. Splith, S. Michalakis and E. Becirovic (2022). "dCas9-VPR-mediated transcriptional activation of functionally equivalent genes for gene therapy." Nat Protoc.

33. Riedmayr, L. M., K. S. Hinrichsmeyer, N. Karguth, S. Bohm, V. Splith, S. Michalakis and E. Becirovic (2022). "dCas9-VPR-mediated transcriptional activation of functionally equivalent genes for gene therapy." Nat Protoc 17(3): 781-818.

34. Schaeferhoff, K., S. Michalakis, N. Tanimoto, M. D. Fischer, E. Becirovic, S. C. Beck, G. Huber, N. Rieger, O. Riess, B. Wissinger, M. Biel, M. W. Seeliger and M. Bonin (2010). "Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice." Cell Mol Life Sci 67(18): 3173-3186.

35. Schon, C., E. Becirovic, M. Biel and S. Michalakis (2018). "Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa." Methods Mol Biol 1715: 33-46.

36. Stieglitz, M. S., S. Fenske, V. Hammelmann, E. Becirovic, V. Schottle, J. E. Delorme, M. Scholl-Weidinger, R. Mader, J. Deussing, D. P. Wolfer, M. W. Seeliger, U. Albrecht, C. T. Wotjak, M. Biel, S. Michalakis and C. Wahl-Schott (2017). "Disturbed Processing of Contextual Information in HCN3 Channel Deficient Mice." Front Mol Neurosci 10: 436.

37. Wagner, J. E., C. Schon, E. Becirovic, M. Biel and S. Michalakis (2019). "In Vitro Evaluation of AAV Vectors for Retinal Gene Therapy." Methods Mol Biol 1834: 383-390.