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3 results on '"Mingaj, X."'

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

Author

Megat, S., Mora, N., Sanogo, J., Roman, O., Catanese, A., Alami, N.O., Freischmidt, A., Mingaj, X., Calbiac, H. De, Muratet, F., Dirrig-Grosch, S., Dieterle, S., Bakel, N. Van, Muller, K., Sieverding, K., Weishaupt, J., Andersen, P.M., Weber, M., Neuwirth, C., Margelisch, M., Sommacal, A., Eijk, K.R. van, Veldink, J.H., Lautrette, G., Couratier, P., Camuzat, A., Ber, I. Le, Grassano, M., Chio, A., Boeckers, T., Ludolph, A.C., Roselli, F., Yilmazer-Hanke, D., Millecamps, S., Kabashi, E., Storkebaum, E.J.M., Sellier, C., Dupuis, L., Megat, S., Mora, N., Sanogo, J., Roman, O., Catanese, A., Alami, N.O., Freischmidt, A., Mingaj, X., Calbiac, H. De, Muratet, F., Dirrig-Grosch, S., Dieterle, S., Bakel, N. Van, Muller, K., Sieverding, K., Weishaupt, J., Andersen, P.M., Weber, M., Neuwirth, C., Margelisch, M., Sommacal, A., Eijk, K.R. van, Veldink, J.H., Lautrette, G., Couratier, P., Camuzat, A., Ber, I. Le, Grassano, M., Chio, A., Boeckers, T., Ludolph, A.C., Roselli, F., Yilmazer-Hanke, D., Millecamps, S., Kabashi, E., Storkebaum, E.J.M., Sellier, C., and Dupuis, L.

Abstract

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Published
2023

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

Author

Megat S, Mora N, Sanogo J, Roman O, Catanese A, Alami NO, Freischmidt A, Mingaj X, De Calbiac H, Muratet F, Dirrig-Grosch S, Dieterle S, Van Bakel N, Müller K, Sieverding K, Weishaupt J, Andersen PM, Weber M, Neuwirth C, Margelisch M, Sommacal A, Van Eijk KR, Veldink JH, Lautrette G, Couratier P, Camuzat A, Le Ber I, Grassano M, Chio A, Boeckers T, Ludolph AC, Roselli F, Yilmazer-Hanke D, Millecamps S, Kabashi E, Storkebaum E, Sellier C, and Dupuis L

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

Author

Megat S, Mora N, Sanogo J, Roman O, Catanese A, Alami NO, Freischmidt A, Mingaj X, De Calbiac H, Muratet F, Dirrig-Grosch S, Dieterle S, Van Bakel N, Müller K, Sieverding K, Weishaupt J, Andersen PM, Weber M, Neuwirth C, Margelisch M, Sommacal A, Van Eijk KR, Veldink JH, Lautrette G, Couratier P, Camuzat A, Le Ber I, Grassano M, Chio A, Boeckers T, Ludolph AC, Roselli F, Yilmazer-Hanke D, Millecamps S, Kabashi E, Storkebaum E, Sellier C, and Dupuis L

Subjects
Animals, Mutation, Neurons metabolism, RNA-Binding Protein FUS genetics, RNA-Binding Protein FUS metabolism, Zebrafish metabolism, Humans, Disease Models, Animal, Amyotrophic Lateral Sclerosis genetics, Amyotrophic Lateral Sclerosis metabolism, Frontotemporal Dementia genetics
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 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 a NUP50 frameshift mutation displayed a decreased level of NUP50. Loss of NUP50 leads to death of cultured neurons, and motor defects in Drosophila and zebrafish. Thus, our study identifies alterations in splicing in neurons as critical in ALS and provides genetic evidence linking nuclear pore defects to ALS., (© 2022. The Author(s).)

Published
2023
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