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

doi:10.1038/s41467-017-02299-1

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Article

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

Nature communications - 23 Jan 2018

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, Weishaupt Jochen H, Holzmann Karlheinz, Troost Dirk, Ludolph Albert C, Boeckers Tobias M, Liebau Stefan, Petri Susanne, Cordes Nils, Hyman Anthony A, Wegner Florian, Grill Stephan W, Weis Joachim, Storch Alexander, Hermann Andreas

Abstract excerpt

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 pathophysiology of FUS-ALS remains enigmatic. Using human induced pluripotent stem cell (hiPSCs)-derived motor neurons...

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PMID: 29362359
DOI: 10.1038/s41467-017-02299-1
PMCID: PMC5780468

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Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.PMID 29362359Read ↗

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The fused in sarcoma protein forms cytoplasmic aggregates in motor neurons derived from integration-free induced pluripotent stem cells generated from a patient with familial amyotrophic lateral sclerosis carrying the FUS-P525L mutation.Semantic proximity Read ↗

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Selective Inhibition of Cytosolic PARylation via PARG99: A Targeted Approach for Mitigating FUS-associated NeurodegenerationSemantic proximity Read ↗

FUS Unveiled in Mitochondrial DNA Repair and Targeted Ligase-1 Expression Rescues Repair-Defects in FUS-Linked NeurodegenerationSemantic proximity Read ↗

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