Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Kirsten Sieverding"'
Autor:
Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-3 (2023)
Externí odkaz:
https://doaj.org/article/b08aebba67f346b6a340f3cc87fac551
Autor:
Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. Veldink, Project Mine Als Sequencing Consortium, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chio, Tobias Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer-Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Amyotrophic lateral sclerosis (ALS) has substantial heritability, in part shared with fronto-temporal dementia (FTD). We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP
Externí odkaz:
https://doaj.org/article/6c41a4f4e8fe4f95afcbf96cee484c70
Autor:
Jan H. Veldink, Edor Kabashi, Sylvie Dirrig-Grosch, Peter M Andersen, Najwa Ouali Alami, Luc Dupuis, Kirsten Sieverding, Axel Freischmidt, Natalia Mora, Albert C. Ludolph, Tobias M. Boeckers, Markus Margelisch, Philippe Couratier, Francesco Roselli, François Muratet, Andreas Sommacal, Chantal Sellier, Géraldine Lautrette, Erik Storkebaum, Markus Weber, Nick H.M. van Bakel, Stéphane Dieterlé, Stéphanie Millecamps, Kristel R. van Eijk, Jochen H. Weishaupt, Alberto Catanese, Kathrin Muller, Salim Megat, Xhuljana Mingaj, Christoph Neuwirth, Jason Sanogo, Hortense de Calbiac, Deniz Yilmazer-Hanke
The genetic basis of amyotrophic lateral sclerosis (ALS) is still incompletely understood. Using two independent genetic strategies, we show here that a large part of ALS heritability lies in genes expressed in inhibitory and excitatory neurons, espe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a41e6326cbbfff9095abfc6e283f98d4
https://doi.org/10.1101/2021.08.23.21262299
https://doi.org/10.1101/2021.08.23.21262299
Autor:
Lena Fischer, Clémentine E. Philibert, Karin M Danzer, Axel Freischmidt, Eva Buck, Simon Tii Mungwa, Michael Sendtner, Jochen H. Weishaupt, Patrick Lüningschrör, Clara Bruno, Takashi Satoh, Albert C. Ludolph, David A. Brenner, Johannes Ulmer, Shizuo Akira, Corinna Bliederhäuser, Séverine Boillée, Kirsten Sieverding, Sarah J Brockmann, Benjamin Mayer, Christian S. Lobsiger
Publikováno v:
Journal of Experimental Medicine. 216:267-278
Heterozygous loss-of-function mutations of TANK-binding kinase 1 ( TBK1 ) cause familial ALS, yet downstream mechanisms of TBK1 mutations remained elusive. TBK1 is a pleiotropic kinase involved in the regulation of selective autophagy and inflammatio
Autor:
Kirsten Sieverding, David A. Brenner, Christian S. Lobsiger, Deniz Yilmazer-Hanke, Benjamin Mayer, Axel Freischmidt, Albert C. Ludolph, Shizuo Akira, Takashi Satoh, Karin M Danzer, Clara Bruno, Jochen H. Weishaupt, Paul Walther
Publikováno v:
Brain Communications
Loss-of-function mutations in TANK-binding kinase 1 cause genetic amyotrophic lateral sclerosis and frontotemporal dementia. Consistent with incomplete penetrance in humans, haploinsufficiency of TANK-binding kinase 1 did not cause motor symptoms in
Autor:
Kirsten, Sieverding, Johannes, Ulmer, Clara, Bruno, Takashi, Satoh, William, Tsao, Axel, Freischmidt, Shizuo, Akira, Philip C, Wong, Albert C, Ludolph, Karin M, Danzer, Christian S, Lobsiger, David, Brenner, Jochen H, Weishaupt
Publikováno v:
Experimental neurology. 335
Mutations in the genes TARDBP (encoding the TDP-43 protein) and TBK1 can cause familial ALS. Neuronal cytoplasmatic accumulations of the misfolded, hyperphosphorylated RNA-binding protein TDP-43 are the pathological hallmark of most ALS cases and hav
Autor:
Kirsten Sieverding, Shizuo Akira, Karin M Danzer, Jochen H. Weishaupt, Clara Bruno, David A. Brenner, William Tsao, Christian S. Lobsiger, Johannes Ulmer, Axel Freischmidt, Albert C. Ludolph, Takashi Satoh, Philip C. Wong
Publikováno v:
Experimental Neurology. 335:113496
Mutations in the genes TARDBP (encoding the TDP-43 protein) and TBK1 can cause familial ALS. Neuronal cytoplasmatic accumulations of the misfolded, hyperphosphorylated RNA-binding protein TDP-43 are the pathological hallmark of most ALS cases and hav
Autor:
David, Brenner, Kirsten, Sieverding, Clara, Bruno, Patrick, Lüningschrör, Eva, Buck, Simon, Mungwa, Lena, Fischer, Sarah J, Brockmann, Johannes, Ulmer, Corinna, Bliederhäuser, Clémentine E, Philibert, Takashi, Satoh, Shizuo, Akira, Séverine, Boillée, Benjamin, Mayer, Michael, Sendtner, Albert C, Ludolph, Karin M, Danzer, Christian S, Lobsiger, Axel, Freischmidt, Jochen H, Weishaupt
Publikováno v:
The Journal of Experimental Medicine
This study shows that mice with an ALS-linked heterozygous Tbk1 deletion are normal until at least 200 d of age. However, proteostatic and neuroinflammatory challenge by additional expression of mutant SOD1 unmasks a two-edged role of TBK1 in motoneu