Integrative genetic analysis illuminates ALS heritability and identifies risk genes

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)...

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Detalles Bibliográficos
Autores principales: Megat, Salim, Mora, Natalia, Sanogo, Jason, Roman, Olga, Catanese, Alberto, Alami, Najwa Ouali, Freischmidt, Axel, Mingaj, Xhuljana, De Calbiac, Hortense, Muratet, François, Dirrig-Grosch, Sylvie, Dieterle, Stéphane, Van Bakel, Nick, Müller, Kathrin, Sieverding, Kirsten, Weishaupt, Jochen, Andersen, Peter Munch, Weber, Markus, Neuwirth, Christoph, Margelisch, Markus, Sommacal, Andreas, Van Eijk, Kristel R., Veldink, Jan H., Lautrette, Géraldine, Couratier, Philippe, Camuzat, Agnès, Le Ber, Isabelle, Grassano, Maurizio, Chio, Adriano, Boeckers, Tobias, Ludolph, Albert C., Roselli, Francesco, Yilmazer-Hanke, Deniz, Millecamps, Stéphanie, Kabashi, Edor, Storkebaum, Erik, Sellier, Chantal, Dupuis, Luc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9860017/
https://www.ncbi.nlm.nih.gov/pubmed/36670122
http://dx.doi.org/10.1038/s41467-022-35724-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9860017/
https://www.ncbi.nlm.nih.gov/pubmed/36670122
http://dx.doi.org/10.1038/s41467-022-35724-1

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