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 H. Weishaupt, Peter M. Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. van Eijk, Jan H. Veldink, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chiò, Tobias M. Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer‐Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis,
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-43 and FUS. A transcriptome wide association study (TWAS) identified 6 loci associated with ALS, including in NUP50 encoding for the nucleopore basket protein NUP50. Independently, rare variants in NUP50 were associated with ALS risk ( P = 3.71.10 −03 ; odds ...
Tópico(s): Genetic Neurodegenerative Diseases
2023 - Nature Portfolio | Nature Communications
Elisabeth Mole Chalovich, Jian-hui Zhu, John Caltagarone, Robert Bowser, Charleen T. Chu,
... 917Crossref PubMed Scopus (78) Google Scholar, 21Barkats M. Millecamps S. Bilang-Bleuel A. Mallet J. J. Neurochem. ...
Tópico(s): Nerve injury and regeneration
2006 - Elsevier BV | Journal of Biological Chemistry
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 H. Weishaupt, Peter M. Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. van Eijk, Jan H. Veldink, Géraldine Lautrette, Philippe Couratier, Agnès Camuzat, Isabelle Le Ber, Maurizio Grassano, Adriano Chiò, Tobias M. Boeckers, Albert C. Ludolph, Francesco Roselli, Deniz Yilmazer‐Hanke, Stéphanie Millecamps, Edor Kabashi, Erik Storkebaum, Chantal Sellier, Luc Dupuis,
Tópico(s): Amyotrophic Lateral Sclerosis Research
2023 - Nature Portfolio | Nature Communications