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Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
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; Project Mine Als Sequencing Consortium; 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, Dupuis L. Megat S, et al. Among authors: sieverding k. Nat Commun. 2023 Jan 20;14(1):342. doi: 10.1038/s41467-022-35724-1. Nat Commun. 2023. PMID: 36670122 Free PMC article.
Heterozygous Tbk1 loss has opposing effects in early and late stages of ALS in mice.
Brenner D, Sieverding K, Bruno C, Lüningschrör P, Buck E, Mungwa S, Fischer L, Brockmann SJ, Ulmer J, Bliederhäuser C, Philibert CE, Satoh T, Akira S, Boillée S, Mayer B, Sendtner M, Ludolph AC, Danzer KM, Lobsiger CS, Freischmidt A, Weishaupt JH. Brenner D, et al. Among authors: sieverding k. J Exp Med. 2019 Feb 4;216(2):267-278. doi: 10.1084/jem.20180729. Epub 2019 Jan 11. J Exp Med. 2019. PMID: 30635357 Free PMC article.
Haploinsufficiency of TANK-binding kinase 1 prepones age-associated neuroinflammatory changes without causing motor neuron degeneration in aged mice.
Bruno C, Sieverding K, Freischmidt A, Satoh T, Walther P, Mayer B, Ludolph AC, Akira S, Yilmazer-Hanke D, Danzer KM, Lobsiger CS, Brenner D, Weishaupt JH. Bruno C, et al. Among authors: sieverding k. Brain Commun. 2020 Aug 21;2(2):fcaa133. doi: 10.1093/braincomms/fcaa133. eCollection 2020. Brain Commun. 2020. PMID: 33005894 Free PMC article.
Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
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; Project Mine Als Sequencing Consortium; 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, Dupuis L. Megat S, et al. Among authors: sieverding k. Nat Commun. 2023 Dec 4;14(1):8026. doi: 10.1038/s41467-023-43710-4. Nat Commun. 2023. PMID: 38049418 Free PMC article. No abstract available.
A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice.
Brenner D, Sieverding K, Srinidhi J, Zellner S, Secker C, Yilmaz R, Dyckow J, Amr S, Ponomarenko A, Tunaboylu E, Douahem Y, Schlag JS, Rodríguez Martínez L, Kislinger G, Niemann C, Nalbach K, Ruf WP, Uhl J, Hollenbeck J, Schirmer L, Catanese A, Lobsiger CS, Danzer KM, Yilmazer-Hanke D, Münch C, Koch P, Freischmidt A, Fetting M, Behrends C, Parlato R, Weishaupt JH. Brenner D, et al. Among authors: sieverding k. J Exp Med. 2024 May 6;221(5):e20221190. doi: 10.1084/jem.20221190. Epub 2024 Mar 22. J Exp Med. 2024. PMID: 38517332 Free PMC article.