Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Autor: Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaudé, Marie-Josephe Tête, Alexandra Cambier, Julien Hogan, Veronique Baudouin, Saoussen Krid, Albert Bensman, Florie Lammens, Ferielle Louillet, Bruno Ranchin, Cecile Vigneau, Iseline Bouteau, Corinne Isnard-Bagnis, Christoph J. Mache, Tobias Schäfer, Lars Pape, Markus Gödel, Tobias B. Huber, Marcus Benz, Günter Klaus, Matthias Hansen, Kay Latta, Olivier Gribouval, Vincent Morinière, Carole Tournant, Maik Grohmann, Elisa Kuhn, Timo Wagner, Christine Bole-Feysot, Fabienne Jabot-Hanin, Patrick Nitschké, Tarunveer S. Ahluwalia, Anna Köttgen, Christian Brix Folsted Andersen, Carsten Bergmann, Corinne Antignac, Matias Simons

Publikováno v: The Journal of Clinical Investigation, Vol 132, Iss 11 (2022)

Externí odkaz: https://doaj.org/article/01f10fc3644d4890add9690ba176560b

A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes

Autor: Markus M. Rinschen, Markus Gödel, Florian Grahammer, Stefan Zschiedrich, Martin Helmstädter, Oliver Kretz, Mostafa Zarei, Daniela A. Braun, Sebastian Dittrich, Caroline Pahmeyer, Patricia Schroder, Carolin Teetzen, HeonYung Gee, Ghaleb Daouk, Martin Pohl, Elisa Kuhn, Bernhard Schermer, Victoria Küttner, Melanie Boerries, Hauke Busch, Mario Schiffer, Carsten Bergmann, Marcus Krüger, Friedhelm Hildebrandt, Joern Dengjel, Thomas Benzing, Tobias B. Huber

Publikováno v: Cell Reports, Vol 23, Iss 8, Pp 2495-2508 (2018)

Summary: Damage to and loss of glomerular podocytes has been identified as the culprit lesion in progressive kidney diseases. Here, we combine mass spectrometry-based proteomics with mRNA sequencing, bioinformatics, and hypothesis-driven studies to p

Externí odkaz: https://doaj.org/article/829b5109182743b5adae0c030affe4e5

A novel domain regulating degradation of the glomerular slit diaphragm protein podocin in cell culture systems.

Autor: Markus Gödel, Benjamin N Ostendorf, Jessica Baumer, Katrin Weber, Tobias B Huber

Publikováno v: PLoS ONE, Vol 8, Iss 2, p e57078 (2013)

Mutations in the gene NPHS2 are the most common cause of hereditary steroid-resistant nephrotic syndrome. Its gene product, the stomatin family member protein podocin represents a core component of the slit diaphragm, a unique structure that bridges

Externí odkaz: https://doaj.org/article/e18a32c59dae40cd82b70ff6da8b3328

Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria ( HHRH )

Autor: Julian Stürznickel, Fiona Heider, Alena Delsmann, Markus Gödel, Johannes Grünhagen, Tobias B Huber, Uwe Kornak, Michael Amling, Ralf Oheim

Publikováno v: Journal of Bone and Mineral Research. 37:1580-1591

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23-independent disease caused by biallelic variants in the solute carrier family 34-member 3 (SLC34A3) gene. HHRH is characterized by chronic hypophosphatemia and an incr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc449114c57b11b9e5da3d6d65152917
https://doi.org/10.1002/jbmr.4630

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

Autor: Marie-Josèphe Tête, Matthias Hansen, Florie Lammens, Tobias Schäfer, Albert Bensman, Alexandra Cambier, Tobias B. Huber, Christoph J. Mache, Elisa Kuhn, Christian Brix Folsted Andersen, Corinne Isnard-Bagnis, Tarunveer S. Ahluwalia, Günter Klaus, Mathilda Bedin, Fabienne Jabot-Hanin, Julien Hogan, Laure Villoing-Gaudé, Timo Wagner, Patrick Nitschke, Carole Tournant, Marcus R. Benz, Maik Grohmann, Markus Gödel, Aude Servais, Corinne Antignac, Cécile Vigneau, Ferielle Louillet, Christine Bole-Feysot, Véronique Baudouin, Iseline Bouteau, Lars Pape, Kay Latta, Carsten Bergmann, Yong Li, Vincent Morinière, Saoussen Krid, Olivier Gribouval, Olivia Boyer, Bruno Ranchin, Anna Köttgen, Matias Simons

Publikováno v: Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2020, 130 (1), pp.335-344. ⟨10.1172/JCI129937⟩
Bedin, M, Boyer, O, Servais, A, Li, Y, Villoing-Gaudé, L, Tête, M J, Cambier, A, Hogan, J, Baudouin, V, Krid, S, Bensman, A, Lammens, F, Louillet, F, Ranchin, B, Vigneau, C, Bouteau, I, Isnard-Bagnis, C, MacHe, C J, Schäfer, T, Pape, L, Gödel, M, Huber, T B, Benz, M, Klaus, G, Hansen, M, Latta, K, Gribouval, O, Morinière, V, Tournant, C, Grohmann, M, Kuhn, E, Wagner, T, Bole-Feysot, C, Jabot-Hanin, F, Nitschké, P, Ahluwalia, T S, Köttgen, A, Andersen, C B F, Bergmann, C, Antignac, C & Simons, M 2020, ' Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function ', Journal of Clinical Investigation, vol. 130, no. 1, pp. 335-344 . https://doi.org/10.1172/JCI129937
Journal of Clinical Investigation, 2020, 130 (1), pp.335-344. ⟨10.1172/JCI129937⟩

International audience; BACKGROUNDProteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a5e56a3b0812f91e03721198759a655
https://hal-univ-rennes1.archives-ouvertes.fr/hal-02445305