Zobrazeno 1 - 10
of 149
pro vyhledávání: '"Luc, Dupuis"'
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are fatal adult-onset neurodegenerative disorders that share clinical, neuropathological and genetic features, which forms part of a multi-system disease spectrum. The pathological
Externí odkaz:
https://doaj.org/article/4970d2df26f34fb4864b34caca78d6c8
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:
Gabriele Nagel, Deborah Kurz, Raphael S. Peter, Angela Rosenbohm, Wolfgang Koenig, Luc Dupuis, Hansjörg Bäzner, Axel Börtlein, Silke Dempewolf, Martin Schabet, Martin Hecht, Andreas Kohler, Christian Opherk, Andrea Naegele, Norbert Sommer, Alfred Lindner, Hayrettin Tumani, Albert C. Ludolph, Dietrich Rothenbacher
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract Kidney function as part of metabolic changes could be associated with amyotrophic lateral-sclerosis (ALS). We investigated the associations between estimated chronic kidney disease (CKD), based on the Chronic Kidney Disease Epidemiology Coll
Externí odkaz:
https://doaj.org/article/70cfb0441c384b448d439f7e0eb8bb4e
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:
Johannes Dorst, Patrick Weydt, David Brenner, Simon Witzel, Katharina Kandler, André Huss, Christine Herrmann, Maximilian Wiesenfarth, Antje Knehr, Kornelia Günther, Kathrin Müller, Jochen H. Weishaupt, Johannes Prudlo, Karin Forsberg, Peter M. Andersen, Angela Rosenbohm, Joachim Schuster, Francesco Roselli, Luc Dupuis, Benjamin Mayer, Hayrettin Tumani, Jan Kassubek, Albert C. Ludolph
Publikováno v:
EBioMedicine, Vol 90, Iss , Pp 104521- (2023)
Summary: Background: The emergence of potentially effective new therapies for genetic forms of amyotrophic lateral sclerosis (ALS) necessitates the identification of biomarkers to facilitate early treatment, prior to the onset of motor symptoms. Here
Externí odkaz:
https://doaj.org/article/472ba2a0c3944fb48c50475ed6c583f7
Autor:
Alizée Arnoux, Estelle Ayme-Dietrich, Stéphane Dieterle, Marc-Antoine Goy, Stephan Schann, Mélanie Frauli, Laurent Monassier, Luc Dupuis
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Degeneration of brainstem serotonin neurons has been demonstrated in ALS patients and mouse models and was found responsible for the development of spasticity. Consistent with involvement of central serotonin pathways, 5-HT2B receptor (5-HT2
Externí odkaz:
https://doaj.org/article/78eb463cf7e84a3299345d8d48c1867d
Autor:
Rebecca Kassubek, David Weinstock, Anna Behler, Hans-Peter Müller, Luc Dupuis, Jan Kassubek, Albert C. Ludolph
Publikováno v:
Therapeutic Advances in Chronic Disease, Vol 13 (2022)
Background: The pathophysiology of idiopathic intracranial hypertension (IIH), a condition characterized by raised intracranial pressure, is not well understood. Objectives: We hypothesized that the hypothalamus might exhibit alterations in patients
Externí odkaz:
https://doaj.org/article/9229b879aabe4eedbfb7cff65f4763c9
Autor:
Inmaculada Sanjuan-Ruiz, Noé Govea-Perez, Melissa McAlonis-Downes, Stéphane Dieterle, Salim Megat, Sylvie Dirrig-Grosch, Gina Picchiarelli, Diana Piol, Qiang Zhu, Brian Myers, Chao-Zong Lee, Don W Cleveland, Clotilde Lagier-Tourenne, Sandrine Da Cruz, Luc Dupuis
Publikováno v:
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-14 (2021)
Abstract Mutations in FUS, an RNA-binding protein involved in multiple steps of RNA metabolism, are associated with the most severe forms of amyotrophic lateral sclerosis (ALS). Accumulation of cytoplasmic FUS is likely to be a major culprit in the t
Externí odkaz:
https://doaj.org/article/99efacbef7004ce6bd0c304590be3071
Autor:
David Bayer, Stefano Antonucci, Hans-Peter Müller, Rami Saad, Luc Dupuis, Volker Rasche, Tobias M. Böckers, Albert C. Ludolph, Jan Kassubek, Francesco Roselli
Publikováno v:
Translational Neurodegeneration, Vol 10, Iss 1, Pp 1-17 (2021)
Abstract Background Increased catabolism has recently been recognized as a clinical manifestation of amyotrophic lateral sclerosis (ALS). The hypothalamic systems have been shown to be involved in the metabolic dysfunction in ALS, but the exact exten
Externí odkaz:
https://doaj.org/article/a6593394dc8947b5b66f4a710304a553
Autor:
Jelena Scekic-Zahirovic, Inmaculada Sanjuan-Ruiz, Vanessa Kan, Salim Megat, Pierre De Rossi, Stéphane Dieterlé, Raphaelle Cassel, Marguerite Jamet, Pascal Kessler, Diana Wiesner, Laura Tzeplaeff, Valérie Demais, Sonu Sahadevan, Katharina M. Hembach, Hans-Peter Muller, Gina Picchiarelli, Nibha Mishra, Stefano Antonucci, Sylvie Dirrig-Grosch, Jan Kassubek, Volker Rasche, Albert Ludolph, Anne-Laurence Boutillier, Francesco Roselli, Magdalini Polymenidou, Clotilde Lagier-Tourenne, Sabine Liebscher, Luc Dupuis
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
Mutations in the RNA binding protein FUS are associated with ALS. Here the authors show that in FUS knock-in mice there is a progressive increase in neuronal activity in the frontal cortex which is associated with altered synaptic gene expression.
Externí odkaz:
https://doaj.org/article/81d53965ba1c4f5cbe4fa11bc13113fd