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Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.
Niehues S, Bussmann J, Steffes G, Erdmann I, Köhrer C, Sun L, Wagner M, Schäfer K, Wang G, Koerdt SN, Stum M, Jaiswal S, RajBhandary UL, Thomas U, Aberle H, Burgess RW, Yang XL, Dieterich D, Storkebaum E. Niehues S, et al. Among authors: storkebaum e. Nat Commun. 2015 Jul 3;6:7520. doi: 10.1038/ncomms8520. Nat Commun. 2015. PMID: 26138142 Free PMC article.
Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss.
Scekic-Zahirovic J, Sendscheid O, El Oussini H, Jambeau M, Sun Y, Mersmann S, Wagner M, Dieterlé S, Sinniger J, Dirrig-Grosch S, Drenner K, Birling MC, Qiu J, Zhou Y, Li H, Fu XD, Rouaux C, Shelkovnikova T, Witting A, Ludolph AC, Kiefer F, Storkebaum E, Lagier-Tourenne C, Dupuis L. Scekic-Zahirovic J, et al. Among authors: storkebaum e. EMBO J. 2016 May 17;35(10):1077-97. doi: 10.15252/embj.201592559. Epub 2016 Mar 7. EMBO J. 2016. PMID: 26951610 Free PMC article.
Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis.
Scekic-Zahirovic J, Oussini HE, Mersmann S, Drenner K, Wagner M, Sun Y, Allmeroth K, Dieterlé S, Sinniger J, Dirrig-Grosch S, René F, Dormann D, Haass C, Ludolph AC, Lagier-Tourenne C, Storkebaum E, Dupuis L. Scekic-Zahirovic J, et al. Among authors: storkebaum e. Acta Neuropathol. 2017 Jun;133(6):887-906. doi: 10.1007/s00401-017-1687-9. Epub 2017 Feb 28. Acta Neuropathol. 2017. PMID: 28243725 Free PMC article.
Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.
Naumann M, Pal A, Goswami A, Lojewski X, Japtok J, Vehlow A, Naujock M, Günther R, Jin M, Stanslowsky N, Reinhardt P, Sterneckert J, Frickenhaus M, Pan-Montojo F, Storkebaum E, Poser I, Freischmidt A, Weishaupt JH, Holzmann K, Troost D, Ludolph AC, Boeckers TM, Liebau S, Petri S, Cordes N, Hyman AA, Wegner F, Grill SW, Weis J, Storch A, Hermann A. Naumann M, et al. Among authors: storkebaum e. Nat Commun. 2018 Jan 23;9(1):335. doi: 10.1038/s41467-017-02299-1. Nat Commun. 2018. PMID: 29362359 Free PMC article.
FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis.
Picchiarelli G, Demestre M, Zuko A, Been M, Higelin J, Dieterlé S, Goy MA, Mallik M, Sellier C, Scekic-Zahirovic J, Zhang L, Rosenbohm A, Sijlmans C, Aly A, Mersmann S, Sanjuan-Ruiz I, Hübers A, Messaddeq N, Wagner M, van Bakel N, Boutillier AL, Ludolph A, Lagier-Tourenne C, Boeckers TM, Dupuis L, Storkebaum E. Picchiarelli G, et al. Among authors: storkebaum e. Nat Neurosci. 2019 Nov;22(11):1793-1805. doi: 10.1038/s41593-019-0498-9. Epub 2019 Oct 7. Nat Neurosci. 2019. PMID: 31591561 Free PMC article.
O-GlcNAcase contributes to cognitive function in Drosophila.
Muha V, Fenckova M, Ferenbach AT, Catinozzi M, Eidhof I, Storkebaum E, Schenck A, van Aalten DMF. Muha V, et al. Among authors: storkebaum e. J Biol Chem. 2020 Jun 26;295(26):8636-8646. doi: 10.1074/jbc.RA119.010312. Epub 2020 Feb 24. J Biol Chem. 2020. PMID: 32094227 Free PMC article.
45 results