ZFIN ID: ZDB-PERS-091202-1
Bachmann-Gagescu, Ruxandra
Email: ruxandra.bachmann@imls.uzh.ch
URL: http://www.medgen.uzh.ch/en/forschung/Research-Group-Bachmann-Gagescu.html
Affiliation: Bachmann Lab
Address: Dr. Med., FMH Medical Genetics SNF-Assistant Professor Institut für Medizinische Genetik University of Zurich Wagistrasse 12
Country: Switzerland
Phone:
Fax:
ORCID ID: 0000-0002-3571-5271


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
Latour, B.L., Van De Weghe, J.C., Rusterholz, T.D., Letteboer, S.J., Gomez, A., Shaheen, R., Gesemann, M., Karamzade, A., Asadollahi, M., Barroso-Gil, M., Chitre, M., Grout, M.E., van Reeuwijk, J., van Beersum, S.E., Miller, C.V., Dempsey, J.C., Morsy, H., Bamshad, M.J., Nickerson, D.A., Neuhauss, S.C., Boldt, K., Ueffing, M., Keramatipour, M., Sayer, J.A., Alkuraya, F.S., Bachmann-Gagescu, R., Roepman, R., Doherty, D. (2020) Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. The Journal of Clinical Investigation. 130(8):4423-4439
Ansar, M., Ebstein, F., Özkoç, H., Paracha, S.A., Iwaszkiewicz, J., Gesemann, M., Zoete, V., Ranza, E., Santoni, F.A., Sarwar, M.T., Ahmed, J., Krüger, E., Bachmann-Gagescu, R., Antonarakis, S.E. (2020) Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature. Human molecular genetics. 29(7):1132-1143
Bachmann-Gagescu, R., Neuhauss, S.C. (2019) The photoreceptor cilium and its diseases. Current opinion in genetics & development. 56:22-33
Ojeda Naharros, I., Cristian, F.B., Zang, J., Gesemann, M., Ingham, P.W., Neuhauss, S.C.F., Bachmann-Gagescu, R. (2018) Publisher Correction: The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance. Scientific Reports. 8:12534
Naharros, I.O., Cristian, F.B., Zang, J., Gesemann, M., Ingham, P.W., Neuhauss, S.C.F., Bachmann-Gagescu, R. (2018) The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance. Scientific Reports. 8:2211
Ojeda Naharros, I., Gesemann, M., Mateos, J.M., Barmettler, G., Forbes, A., Ziegler, U., Neuhauss, S.C.F., Bachmann-Gagescu, R. (2017) Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors. PLoS Genetics. 13:e1007150
Mateos, J.M., Barmettler, G., Doehner, J., Ojeda Naharros, I., Guhl, B., Neuhauss, S.C.F., Kaech, A., Bachmann-Gagescu, R., Ziegler, U. (2017) Correlative Super-resolution and Electron Microscopy to Resolve Protein Localization in Zebrafish Retina. Journal of visualized experiments : JoVE. (129)
Van De Weghe, J.C., Rusterholz, T.D.S., Latour, B., Grout, M.E., Aldinger, K.A., Shaheen, R., Dempsey, J.C., Maddirevula, S., Cheng, Y.H., Phelps, I.G., Gesemann, M., Goel, H., Birk, O.S., Alanzi, T., Rawashdeh, R., Khan, A.O., Bamshad, M.J., Nickerson, D.A., Neuhauss, S.C.F., Dobyns, W.B., Alkuraya, F.S., Roepman, R., Bachmann-Gagescu, R., Doherty, D. (2017) Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American journal of human genetics. 101(1):23-36
Dona, M., Bachmann-Gagescu, R., Texier, Y., Toedt, G., Hetterschijt, L., Tonnaer, E.L., Peters, T.A., van Beersum, S.E., Bergboer, J.G., Horn, N., de Vrieze, E., Slijkerman, R.W., van Reeuwijk, J., Flik, G., Keunen, J.E., Ueffing, M., Gibson, T.J., Roepman, R., Boldt, K., Kremer, H., van Wijk, E. (2015) NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish. PLoS Genetics. 11:e1005574
Bachmann-Gagescu, R., Dona, M., Hetterschijt, L., Tonnaer, E., Peters, T., de Vrieze, E., Mans, D.A., van Beersum, S.E., Phelps, I.G., Arts, H.H., Keunen, J.E., Ueffing, M., Roepman, R., Boldt, K., Doherty, D., Moens, C.B., Neuhauss, S.C., Kremer, H., van Wijk, E. (2015) The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking. PLoS Genetics. 11:e1005575
Tuz, K., Bachmann-Gagescu, R., O'Day, D.R., Hua, K., Isabella, C.R., Phelps, I.G., Stolarski, A.E., O'Roak, B.J., Dempsey, J.C., Lourenco, C., Alswaid, A., Bönnemann, C.G., Medne, L., Nampoothiri, S., Stark, Z., Leventer, R.J., Topçu, M., Cansu, A., Jagadeesh, S., Done, S., Ishak, G.E., Glass, I.A., Shendure, J., Neuhauss, S.C., Haldeman-Englert, C.R., Doherty, D., and Ferland, R.J. (2014) Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American journal of human genetics. 94(1):62-72
Bachmann-Gagescu, R., Phelps, I.G., Stearns, G., Link, B.A., Brockerhoff, S.E., Moens, C.B., and Doherty, D. (2011) The Ciliopathy Gene cc2d2a controls Zebrafish Photoreceptor Outer Segment Development Through a Role in Rab8-dependent Vesicle Trafficking. Human molecular genetics. 20(20):4041-55

NON-ZEBRAFISH PUBLICATIONS