Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Simone Braeg"'
Autor:
Giulia Ferri, Valentine Goffette, Esther Porée, Simone Braeg, Shana Carvalho, Marceau Quatredeniers, E. Wolfgang Kuehn, Sophie Saunier, Amandine Viau
Nephronophthisis (NPH) is an orphan recessive kidney disease mostly caused by mutations in NPHP1 and 20 other genes encoding proteins that localize to primary cilia. To date the pathways linking altered primary cilia function to progressive kidney sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e42af3d3e28493abe64aad2fa52dfdc
https://doi.org/10.1101/2022.01.17.475784
https://doi.org/10.1101/2022.01.17.475784
Autor:
Simone Braeg, Amandine Viau, Gerd Walz, Roland Nitschke, Marinella Klein, Fruzsina Kotsis, E. Wolfgang Kuehn, Christopher Boehlke
Publikováno v:
Biochemical and Biophysical Research Communications. 521:290-295
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 or PKD2, the genes encoding polycystin 1 (PC1) and polycystin 2 (PC2), respectively. PC1 and PC2 localize to the primary cilium and form a protein complex, which is t
Autor:
Marceau Quatredeniers, Frank Bienaimé, Giulia Ferri, Pierre Isnard, Esther Porée, Katy Billot, Eléonore Birgy, Manal Mazloum, Salomé Ceccarelli, Flora Silbermann, Simone Braeg, Thao Nguyen-Khoa, Rémi Salomon, Marie-Claire Gubler, E Wolfgang Kuehn, Sophie Saunier, Amandine Viau
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2022, 31 (13), pp.2121-2136. ⟨10.1093/hmg/ddac014⟩
Human Molecular Genetics, 2022, 31 (13), pp.2121-2136. ⟨10.1093/hmg/ddac014⟩
Renal ciliopathies are the leading cause of inherited kidney failure. In autosomal dominant polycystic kidney disease (ADPKD), mutations in the ciliary gene PKD1 lead to the induction of CCL2, which promotes macrophage infiltration in the kidney. Whe
Autor:
T. Nguyen-Khoa, Simone Braeg, E. W. Kuehn, E. Poree, K. Billot, Rémi Salomon, S. Ceccarelli, Frank Bienaimé, Sophie Saunier, Amandine Viau, P. Isnard, Frédéric Legendre, E. Birgy, G. Ferri, M. Quatredeniers, Marie-Claire Gubler
STRUCTURED ABSTRACTBACKGROUNDThe majority of genetic kidney disease leading to kidney failure is caused by mutations in ciliary genes. How cilia malfunction leads to progressive kidney damage is poorly understood, but recent evidence links ciliopathy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::171178321f3dc07f8c3e171bf49d63be
https://doi.org/10.1101/2021.01.07.425719
https://doi.org/10.1101/2021.01.07.425719
Autor:
Simone Braeg, Gerd Walz, Martin Helmstädter, Wilfried Reichardt, Tom Aschman, Melanie Boerries, Florian Grahammer, Jörn Dengjel, Alexis Hofherr, Annette Merkle, Tobias B. Huber, Marie-Claire Gubler, Michael Köttgen, Abhijeet P. Todkar, Fabiola Terzi, Hauke Busch, Frank Bienaimé, Kamile Lukas, Antigoni Triantafyllopoulou, Dietmar Pfeifer, Roland Nitschke, Verónica I. Dumit, Toma A. Yakulov, Manuel Knoll, E. Wolfgang Kuehn, Oliver Kretz, Amandine Viau
Publikováno v:
The EMBO Journal
EMBO Journal
EMBO Journal, 2018, 37 (15), ⟨10.15252/embj.201798615⟩
EMBO Journal
EMBO Journal, 2018, 37 (15), ⟨10.15252/embj.201798615⟩
International audience; Polycystic kidney disease (PKD) and other renal ciliopathies are characterized by cysts, inflammation, and fibrosis. Cilia function as signaling centers, but a molecular link to inflammation in the kidney has not been establis
Autor:
Gerd Walz, Michael Köttgen, Peter Igarashi, Martin Herbst, Markus Gödel, Christoph Hamann, Miriam Hornung, E. Wolfgang Kuehn, Theresa Beyer, Mara Doerken, Vishal Patel, Klaus Müller, Roland Nitschke, Henriette Voelker, Simone Braeg, Saskia Bredt, Heike Janusch, Christopher Boehlke, Fruzsina Kotsis
The mTOR pathway is the central regulator of cell size1. External signals from growth factors and nutrients converge on the mTORC1 multi-protein complex to modulate downstream targets, but how the different inputs are integrated and translated into s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08e584a0bbfef7dbf4da1ee4d62d0eec
https://europepmc.org/articles/PMC3390256/
https://europepmc.org/articles/PMC3390256/
E-cadherin functions as suppressor of invasion in epithelial cells and its loss is described in many invasive carcinomas. In some tumours, the disappearance of E-cadherin has been correlated with upregulation of other classical cadherins, such as N-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e709f565a53f8394f70dbfa954b4b0c3
https://publica.fraunhofer.de/handle/publica/206258
https://publica.fraunhofer.de/handle/publica/206258