Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.

Naumann, Marcel; Pal, Arun; Goswami, Anand; Lojewski, Xenia; Japtok, Julia; Vehlow, Anne; Naujock, Maximilian; Günther, René; Jin, Mengmeng; Stanslowsky, Nancy; Reinhardt, Peter; Sterneckert, Jared; Frickenhaus, Marie; Pan-Montojo, Francisco; Storkebaum, Erik; Poser, Ina; Freischmidt, Axel; H Weishaupt, Jochen; Holzmann, Karlheinz; Troost, Dirk; C Ludolph, Albert; M Boeckers, Tobias; Liebau, Stefan; Petri, Susanne; Cordes, Nils; A Hyman, Anthony; Wegner, Florian; W Grill, Stephan; Weis, Joachim; Storch, Alexander; Hermann, Andreas

doi:10.1038/s41467-017-02299-1

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Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.

Shared by NobleBlocks on Jan 23, 2018 • 12:00 AM UTC

Authors:

Marcel Naumann

Arun Pal

Anand Goswami

Abstract

Amyotrophic lateral sclerosis (ALS) is the most frequent motor neuron disease. Cytoplasmic fused in sarcoma (FUS) aggregates are pathological hallmarks of FUS-ALS. Proper shuttling between the nucleus and cytoplasm is essential for physiological cell function. However, the initial event in the patho...

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