Loss of nucleoporin Nup50 is a risk factor for amyotrophic lateral sclerosis
Salim Megat, Natalia Mora, Jason Sanogo, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense de Calbiac, François Muratet, Sylvie Dirrig‐Grosch, Stéphane Dieterle, Nick H. M. van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Hans Weishaupt, , Luc Dupuis
The paper identifies NUP50 gene variants and reduced expression as risk factors for ALS through transcriptome-wide association and functional studies.
medRxiv · Aug 23, 2021 · PreprintGenetic & Genomic Medicine