Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Sylvie Dirrig-Grosch"'
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:
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:
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
Autor:
Robin Waegaert, Sylvie Dirrig-Grosch, Haoyi Liu, Marion Boutry, Ping Luan, Jean-Philippe Loeffler, Frédérique René
Publikováno v:
Biomolecules, Vol 12, Iss 4, p 497 (2022)
CHMP2B is a protein that coordinates membrane scission events as a core component of the ESCRT machinery. Mutations in CHMP2B are an uncommon cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two neurodegenerative diseas
Externí odkaz:
https://doaj.org/article/70e714f51bd5447c8cc1653382503178
Autor:
Robin Waegaert, Sylvie Dirrig-Grosch, Florian Parisot, Céline Keime, Alexandre Henriques, Jean-Philippe Loeffler, Frédérique René
Publikováno v:
Neurobiology of Disease, Vol 136, Iss , Pp 104710- (2020)
Amyotrophic lateral sclerosis and frontotemporal dementia are two neurodegenerative diseases with currently no cure. These two diseases share a clinical continuum with overlapping genetic causes. Mutations in the CHMP2B gene are found in patients wit
Externí odkaz:
https://doaj.org/article/889466d7b8d340a2a6458e0cb99c65fb
Autor:
Lavinia Palamiuc, Anna Schlagowski, Shyuan T Ngo, Aurelia Vernay, Sylvie Dirrig‐Grosch, Alexandre Henriques, Anne‐Laurence Boutillier, Joffrey Zoll, Andoni Echaniz‐Laguna, Jean‐Philippe Loeffler, Frédérique René
Publikováno v:
EMBO Molecular Medicine, Vol 7, Iss 5, Pp 526-546 (2015)
Abstract Amyotrophic lateral sclerosis (ALS) is the most common fatal motor neuron disease in adults. Numerous studies indicate that ALS is a systemic disease that affects whole body physiology and metabolic homeostasis. Using a mouse model of the di
Externí odkaz:
https://doaj.org/article/41d9b19abb1b404ca75e031658be746d
Autor:
Robin, Waegaert, Sylvie, Dirrig-Grosch, Haoyi, Liu, Marion, Boutry, Ping, Luan, Jean-Philippe, Loeffler, Frédérique, René
Publikováno v:
Biomolecules. 12(4)
CHMP2B is a protein that coordinates membrane scission events as a core component of the ESCRT machinery. Mutations in CHMP2B are an uncommon cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two neurodegenerative diseas
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:
Melissa McAlonis-Downes, Sandrine Da Cruz, Salim Megat, Qiang Zhu, Noé Govea-Perez, Diana Piol, Gina Picchiarelli, Stéphane Dieterlé, Brian Myers, Luc Dupuis, Don W. Cleveland, Clotilde Lagier-Tourenne, Sylvie Dirrig-Grosch, Inmaculada Sanjuan-Ruiz, Chao-Zong Lee
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 toxicity o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f96d97967de60107ba40dded3d5727e5
https://doi.org/10.1101/2020.12.16.423060
https://doi.org/10.1101/2020.12.16.423060