The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development

Autor: Gerd Walz, Carsten Bergmann, Daniel Epting, Soeren S. Lienkamp, Daniela A. Braun, Albrecht Kramer-Zucker, Sylvia Hoff, Friedhelm Hildebrandt, Jan Halbritter, Sophie Schroda, Nathalie Falk

Publikováno v: The Journal of Biological Chemistry

Nephronophthisis (NPH) is an autosomal recessive renal disease leading to kidney failure in children and young adults. The protein products of the corresponding genes (NPHPs) are localized in primary cilia or their appendages. Only about 70% of affec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::878bed21bcf991d7971a1ac794f232d2
https://doi.org/10.1074/jbc.ra117.000847

Inversin relays Frizzled-8 signals to promote proximal pronephros development

Autor: Annekathrin Eifler, Sebastian J. Arnold, Thomas Brox, Christian Powelske, Soeren S. Lienkamp, Julia Schuler, Christopher Boehlke, E. Wolfgang Kuehn, Athina Ganner, Daniel Romaker, Roland Nitschke, Olaf Ronneberger, Thorsten Schmidt, Joachim Gloy, Emily Kim, Axel Bullerkotte, Tobias Schäfer, Corinna Krönig, Gerd Walz, Hans Burkhardt, Sylvia Hoff

Publikováno v: Proceedings of the National Academy of Sciences; Vol 107

Mutations of inversin cause type II nephronophthisis, an infantile autosomal recessive disease characterized by cystic kidney disease and developmental defects. Inversin regulates Wnt signaling and is required for convergent extension movements durin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a97e9d462c8fcd4a8323a54006154108
https://doi.org/10.1073/pnas.1013070107

Casein kinase 1 α phosphorylates the Wnt regulator Jade-1 and modulates its activity

Autor: Thomas Benzing, Lori Borgal, Soeren S. Lienkamp, Bernhard Schermer, Claudia Dafinger, Matthäus J. Reinert, Tobias Lamkemeyer, Markus M. Rinschen, Sylvia Hoff

Publikováno v: Borgal, L, Rinschen, M M, Dafinger, C, Hoff, S, Reinert, M J, Lamkemeyer, T, Lienkamp, S S, Benzing, T & Schermer, B 2014, ' Casein Kinase 1 α Phosphorylates the Wnt Regulator Jade-1 and Modulates Its Activity ', Journal of Biological Chemistry, vol. 289, no. 38, pp. 26344-26356 . https://doi.org/10.1074/jbc.M114.562165

Tight regulation of Wnt/β-catenin signaling is critical for vertebrate development and tissue maintenance, and deregulation can lead to a host of disease phenotypes, including developmental disorders and cancer. Proteins associated with primary cili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfb8ba6bda2271a2e95a0ca3671d3c64
https://pubmed.ncbi.nlm.nih.gov/25100726

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

Autor: Detlef Bockenhauer, Valeska Frank, Jan Halbritter, Albrecht Kramer-Zucker, Edgar A. Otto, Gerd Walz, Marius Ueffing, Emilie Filhol, Daniel Epting, Friedhelm Hildebrandt, Nicola Horn, Søren Rittig, Troels Ring, Martin Helmstädter, Christoph Schell, Mariet W. Elting, Mogens Vyberg, Tobias B. Huber, Martin Pohl, Florian Grahammer, Jeroen van Reeuwijk, Sophie Saunier, Karsten Boldt, Christopher Boehlke, Sylvia Hoff, Neveen A. Soliman Elshakhs, Ronald Roepman, Thomas J. Neuhaus, E. Wolfgang Kuehn, Miriam Mergen, Soeren S. Lienkamp, Sarah J. Koon, Neil J. Sebire, Hanno J. Bolz, Tobias Eisenberger, Lars Pape, Thanh-Minh T. Nguyen, Takayuki Yasunaga, Joanna A.E. van Wijk, Peter C. Harris, Carsten Bergmann

Publikováno v: Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T-M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstädter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-6 . https://doi.org/10.1038/ng.2681
Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T-M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstädter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-956 . https://doi.org/10.1038/ng.2681
Nature Genetics, 45, 951-956
Nature genetics
Nature Genetics, 45, 8, pp. 951-956
Nature Genetics; Vol 45
Hoff, S, Halbritter, J, Epting, D, Frank, V, Nguyen, T M T, van Reeuwijk, J, Boehlke, C, Schell, C, Yasunaga, T, Helmstadter, M, Mergen, M, Filhol, E, Boldt, K, Horn, N, Ueffing, M, Otto, E A, Eisenberger, T, Elting, M W, van Wijk, J A E, Bockenhauer, D, Sebire, N J, Rittig, S, Vyberg, M, Ring, T, Pohl, M, Pape, L, Neuhaus, T J, Elshakhs, N A S, Koon, S J, Harris, P C, Grahammer, F, Huber, T B, Kuehn, E W, Kramer-Zucker, A, Bolz, H J, Roepman, R, Saunier, S, Walz, G, Hildebrandt, F, Bergmann, C & Lienkamp, S S 2013, ' ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 ', Nature Genetics, vol. 45, no. 8, pp. 951-956 . https://doi.org/10.1038/ng.2681
Nature Genetics, 45(8), 951-956. Nature Publishing Group

Item does not contain fulltext Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. Most NPHP gene products form molecular networks. Here we identify ANKS6 as a new NPHP family memb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0647cda9c861220e3ca77e45ab6d84b
https://pure.au.dk/portal/da/publications/anks6-is-a-central-component-of-a-nephronophthisis-module-linking-nek8-to-invs-and-nphp3(39dd210e-b4f2-4673-ac75-b0f585838b82).html

The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin

Autor: Gerd Walz, E. Wolfgang Kuehn, Christopher Boehlke, Soeren S. Lienkamp, Krasimir Slanchev, Lara Indorf, Niki T. Loges, Olaf Ronneberger, Heymut Omran, Takayuki Yasunaga, Sigrun Nestel, Sylvia Hoff, Albrecht Kramer-Zucker, Daniel Epting

Publikováno v: Development. 142:1553-1553

Cilia are microtubule-based organelles that are present on most cells and are required for normal tissue development and function. Defective cilia cause complex syndromes with multiple organ manifestations termed ciliopathies. A crucial step during c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce92c586ffc4b87b6c722d7d9084dd4a
https://doi.org/10.1242/dev.124214