ZFIN Lab: Elisabeth Ott Lab

ZFIN ID: ZDB-LAB-230403-1

ZFIN ID: ZDB-LAB-230403-1

Elisabeth Ott Lab

PI/Director:	Ott, Elisabeth B.
Contact Person:
Email:	elisabeth.ott@uniklinik-freiburg.de
URL:
Address:	Universitätsklinikum Freiburg IMITATE Breisacher Str. 113 79106 Freiburg
Country:	Germany
Phone:	+4976127063101
Fax:
Line Designation:	uf

GENOMIC FEATURES ORIGINATING FROM THIS LAB

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STATEMENT OF RESEARCH INTERESTS

Primary cilia are microtubule based cell organelles that play key roles in development and cell signaling. Defective cilia biogenesis and function lead to a large group of monogenically inherited diseases with variable phenotypic expression. In our lab we are interested in the identification and characterization of new candidates for cystic kidney disease and related ciliopathies. Using patient derived cells we study cilia-related defects and affected cell signaling processes. We use the zebrafish to determine in vivo functions of these genes and to further validate our cell-based data. Through a combination of clinical data, cell-based and zebrafish experiments we aim to increase our understanding of the ciliary protein network and the molecular mechanisms underlying human disease.

LAB MEMBERS

ZEBRAFISH PUBLICATIONS OF LAB MEMBERS

Ott, E., Hoff, S., Indorf, L., Ditengou, F.A., Müller, J., Renschler, G., Lienkamp, S.S., Kramer-Zucker, A., Bergmann, C., Epting, D. (2023) A novel role for the chloride intracellular channel protein Clic5 in ciliary function. Scientific Reports. 13:1764717647

Devane, J., Ott, E., Olinger, E.G., Epting, D., Decker, E., Friedrich, A., Bachmann, N., Renschler, G., Eisenberger, T., Briem-Richter, A., Grabhorn, E.F., Powell, L., Wilson, I.J., Rice, S.J., Miles, C.G., Wood, K., Genomics England Research Consortium, Trivedi, P., Hirschfield, G., Pietrobattista, A., Wohler, E., Mezina, A., Sobreira, N., Agolini, E., Maggiore, G., Dahmer-Heath, M., Yilmaz, A., Boerries, M., Metzger, P., Schell, C., Grünewald, I., Konrad, M., König, J., Schlevogt, B., Sayer, J.A., Bergmann, C. (2022) Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations. American journal of human genetics. 109(5):928-943

Epting, D., Decker, E., Ott, E., Eisenberger, T., Bader, I., Bachmann, N., Bergmann, C. (2022) The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Human molecular genetics. 31(14):2295-2306

Epting, D., Senaratne, L.D.S., Ott, E., Holmgren, A., Sumathipala, D., Larsen, S.M., Wallmeier, J., Bracht, D., Frikstad, K.M., Crowley, S., Sikiric, A., Barøy, T., Käsmann-Kellner, B., Decker, E., Decker, C., Bachmann, N., Patzke, S., Phelps, I.G., Katsanis, N., Giles, R., Schmidts, M., Zucknick, M., Lienkamp, S.S., Omran, H., Davis, E.E., Doherty, D., Strømme, P., Frengen, E., Bergmann, C., Misceo, D. (2020) Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Human Mutation. 41(12):2179-2194

Lu, H., Galeano, M.C.R., Ott, E., Kaeslin, G., Kausalya, P.J., Kramer, C., Ortiz-Brüchle, N., Hilger, N., Metzis, V., Hiersche, M., Tay, S.Y., Tunningley, R., Vij, S., Courtney, A.D., Whittle, B., Wühl, E., Vester, U., Hartleben, B., Neuber, S., Frank, V., Little, M.H., Epting, D., Papathanasiou, P., Perkins, A.C., Wright, G.D., Hunziker, W., Gee, H.Y., Otto, E.A., Zerres, K., Hildebrandt, F., Roy, S., Wicking, C., Bergmann, C. (2017) Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nature Genetics. 49:1025–1034

Ott, E., Wendik, B., Srivastava, M., Pacho, F., Töchterle, S., Salvenmoser, W., Meyer, D. (2016) Pronephric tubule morphogenesis in zebrafish depends on Mnx mediated repression of irx1b within the intermediate mesoderm. Developmental Biology. 411(1):101-14

Ott, I., Kircher, B., Bagowski, C.P., Vlecken, D.H., Ott, E.B., Will, J., Bensdorf, K., Sheldrick, W.S., Gust, R. (2009) Modulation of the Biological Properties of Aspirin by Formation of a Bioorganometallic Derivative. Angewandte Chemie (International ed. in English). 48:1160-3

Vlecken, D.H., Testerink, J., Ott, E.B., Sakalis, P.A., Jaspers, R.T., and Bagowski, C.P. (2009) A critical role for myoglobin in zebrafish development. The International journal of developmental biology. 53(4):517-524

Ott, E.B., van den Akker, N.M., Sakalis, P.A., Gittenberger-de Groot, A.C., Te Velthuis, A.J., and Bagowski, C.P. (2008) The lim domain only protein 7 is important in zebrafish heart development. Developmental Dynamics : an official publication of the American Association of Anatomists. 237(12):3940-3952

Bertola, L.D., Ott, E.B., Griepsma, S., Vonk F.J., Bagowski, C.P. (2008) Developmental expression of the alpha-skeletal actin gene. BMC Evolutionary Biology. 8:166

Ott, E.B., Sakalis, P.A., Marques, I.J., and Bagowski, C.P. (2007) Characterization of the enigma family in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 236(11):3144-3154

Ott, E.B., Te Velthuis, A.J., and Bagowski, C.P. (2007) Comparative analysis of splice form-specific expression of LIM Kinases during zebrafish development. Gene expression patterns : GEP. 7(5):620-629

Te Velthuis, A.J., Ott, E.B., Marques, I.J., and Bagowski, C.P. (2007) Gene expression patterns of the ALP family during zebrafish development. Gene expression patterns : GEP. 7(3):297-305