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Start Over Author "Andersen, Peter Munch" Journal nature communications
3 results on '"Andersen, Peter Munch"'

1. Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes

Author

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, and Dupuis, Luc

Published
2023
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2. Integrative genetic analysis illuminates ALS heritability and identifies risk genes

Author

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, and Dupuis, Luc

Published
2023
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3. Integrative genetic analysis illuminates ALS heritability and identifies risk genes

Author

Megat, Salim, Mora, Natalia, Dirrig-Grosch, Sylvie, Dieterle, Stéphane, Van Bakel, Nick, Müller, Kathrin, Sieverding, Kirsten, Weishaupt, Jochen, Andersen, Peter Munch, Weber, Markus, Neuwirth, Christoph, Margelisch, Markus, Sanogo, Jason, Sommacal, Andreas, Van Eijk, Kristel R, Veldink, Jan H, Consortium, Project Mine Als Sequencing, Lautrette, Géraldine, Couratier, Philippe, Camuzat, Agnès, Le Ber, Isabelle, Grassano, Maurizio, Chio, Adriano, Roman, Olga, Böckers, Tobias, Ludolph, Albert C, Roselli, Francesco, Yilmazer-Hanke, Deniz, Millecamps, Stéphanie, Kabashi, Edor, Storkebaum, Erik, Sellier, Chantal, Dupuis, Luc, Castanese, Alberto, Alami, Najwa Ouali, Freischmidt, Axel, Mingaj, Xhuljana, De Calbiac, Hortense, and Muratet, François

Subjects
metabolism [RNA-Binding Protein FUS], Multidisciplinary, Neurologi, metabolism [Amyotrophic Lateral Sclerosis], Neurosciences, General Physics and Astronomy, General Chemistry, General Biochemistry, Genetics and Molecular Biology, genetics [Amyotrophic Lateral Sclerosis], Neurology, metabolism [Neurons], Mutation, Animals, RNA-Binding Protein FUS, ddc:500, metabolism [Zebrafish], genetics [Frontotemporal Dementia], genetics [RNA-Binding Protein FUS], Neurovetenskaper, Molecular Neurobiology
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 inNUP50encoding for the nucleopore basket protein NUP50. Independently, rare variants inNUP50were associated with ALS risk (P = 3.71.10−03; odds ratio = 3.29; 95%CI, 1.37 to 7.87) in a cohort of 9,390 ALS/FTD patients and 4,594 controls. Cells from one patient carrying aNUP50frameshift mutation displayed a decreased level of NUP50. Loss of NUP50 leads to death of cultured neurons, and motor defects inDrosophilaand zebrafish. Thus, our study identifies alterations in splicing in neurons as critical in ALS and provides genetic evidence linking nuclear pore defects to ALS.

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