The R2TP-complex in the molecular pathogenesis of cystic kidney diseases and in ciliary biology

• Applicant: Professor Dr. Bernhard Schermer
• Subject Area: Nephrology
• Term: from 2016 to 2021
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 314732659

• Final Report Year: 2020

Final Report Abstract

No abstract available

Publications

• Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations. Pediatr. Nephrol. 32, 1269-1273 (2017)
  Ebner, K., Dafinger, C., Ortiz-Bruechle, N., Koerber, F., Schermer, B., Benzing, T., Dotsch, J., Zerres, K., Weber, L.T., Beck, B.B. & Liebau, M.C.
  (See online at https://doi.org/10.1007/s00467-017-3648-x)
• Magnetic resonance T2 mapping and diffusionweighted imaging for early detection of cystogenesis and response to therapy in a mouse model of polycystic kidney disease. Kidney Int. 92, 1544-1554 (2017)
  Franke, M., Baessler, B., Vechtel, J., Dafinger, C., Hohne, M., Borgal, L., Gobel, H., Koerber, F., Maintz, D., Benzing, T., Schermer, B. & Persigehl, T.
  (See online at https://doi.org/10.1016/j.kint.2017.05.024)
• The ciliary membrane-associated proteome reveals actin-binding proteins as key components of cilia. EMBO Rep 18, 1521-1535 (2017)
  Kohli, P., Hohne, M., Jungst, C., Bertsch, S., Ebert, L.K., Schauss, A.C., Benzing, T., Rinschen, M.M. & Schermer, B.
  (See online at https://doi.org/10.15252/embr.201643846)
• An optimized electroporation approach for efficient CRISPR/Cas9 genome editing in murine zygotes. PLoS One 13, e0196891 (2018)
  Troder, S.E., Ebert, L.K., Butt, L., Assenmacher, S., Schermer, B. & Zevnik, B.
  (See online at https://doi.org/10.1371/journal.pone.0196891)
• Proline-dependent and basophilic kinases phosphorylate human TRPC6 at serine 14 to control channel activity through increased membrane expression. FASEB J. 32, 208-219 (2018)
  Hagmann, H., Mangold, N., Rinschen, M.M., Koenig, T., Kunzelmann, K., Schermer, B., Benzing, T. & Brinkkoetter, P.T.
  (See online at https://doi.org/10.1096/fj.201700309R)
• Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus. Exp. Mol. Med. 50, 1-17 (2018)
  Dafinger, C., Rinschen, M.M., Borgal, L., Ehrenberg, C., Basten, S.G., Franke, M., Hohne, M., Rauh, M., Gobel, H., Bloch, W., Wunderlich, F.T., Peters, D.J.M., Tasche, D., Mishra, T., Habbig, S., Dotsch, J., Muller, R.U., Bruning, J.C., Persigehl, T., Giles, R.H., Benzing, T., Schermer, B. & Liebau, M.C.
  (See online at https://doi.org/10.1038/s12276-018-0108-z)
• A protein- RNA interaction atlas of the ribosome biogenesis factor AATF. Sci. Rep. 9, 11071 (2019)
  Kaiser, R.W.J., Ignarski, M., Van Nostrand, E.L., Frese, C.K., Jain, M., Cukoski, S., Heinen, H., Schaechter, M., Seufert, L., Bunte, K., Frommolt, P., Keller, P., Helm, M., Bohl, K., Hohne, M., Schermer, B., Benzing, T., Hopker, K., Dieterich, C., Yeo, G.W., Muller, R.U. & Fabretti, F.
  (See online at https://doi.org/10.1038/s41598-019-47552-3)
• Activation of Hypoxia-Inducible Factor Signaling Modulates the RNA Protein Interactome in Caenorhabditis elegans. iScience 22, 466-476 (2019)
  Esmaillie, R., Ignarski, M., Bohl, K., Kruger, T., Ahmad, D., Seufert, L., Schermer, B., Benzing, T., Muller, R.U. & Fabretti, F.
  (See online at https://doi.org/10.1016/j.isci.2019.11.039)
• Antagonizing Transcription Factor in tubular epithelial cells induces accumulation of DNA damage and nephronophthisis. Kidney Int. 95, 846-858 (2019)
  Jain, M., Kaiser, R.W.J., Bohl, K., Hoehne, M., Gobel, H., Bartram, M.P., Habbig, S., Muller, R.U., Fogo, A.B., Benzing, T., Schermer, B., Hopker, K. & Slaats, G.G.
  (See online at https://doi.org/10.1016/j.kint.2018.10.034)
• Enzyme Replacement Therapy Clears Gb3 Deposits from a Podocyte Cell Culture Model of Fabry Disease but Fails to Restore Altered Cellular Signaling. Cell. Physiol. Biochem. 52, 1139-1150 (2019)
  Braun, F., Blomberg, L., Brodesser, S., Liebau, M.C., Schermer, B., Benzing, T. & Kurschat, C.E.
  (See online at https://doi.org/10.33594/000000077)
• The RNA-Protein Interactome of Differentiated Kidney Tubular Epithelial Cells. J. Am. Soc. Nephrol. 30, 564-576 (2019)
  Ignarski, M., Rill, C., Kaiser, R.W.J., Kaldirim, M., Neuhaus, R., Esmaillie, R., Li, X., Klein, C., Bohl, K., Petersen, M., Frese, C.K., Hohne, M., Atanassov, I., Rinschen, M.M., Hopker, K., Schermer, B., Benzing, T., Dieterich, C., Fabretti, F. & Muller, R.U.
  (See online at https://doi.org/10.1681/ASN.2018090914)
• Hippo signaling-a central player in cystic kidney disease? Pediatr. Nephrol. 35, 1143-1152 (2020)
  Muller, R.U. & Schermer, B.
  (See online at https://doi.org/10.1007/s00467-019-04299-3)
• The Integrated RNA Landscape of Renal Preconditioning against Ischemia-Reperfusion Injury. J. Am. Soc. Nephrol. 31, 716-730 (2020)
  Johnsen, M., Kubacki, T., Yeroslaviz, A., Spath, M.R., Morsdorf, J., Gobel, H., Bohl, K., Ignarski, M., Meharg, C., Habermann, B., Altmuller, J., Beyer, A., Benzing, T., Schermer, B., Burst, V. & Muller, R.U.
  (See online at https://doi.org/10.1681/ASN.2019050534)