Article
Stepwise acquirement of hallmark neuropathology in FUS-ALS iPSC models depends on mutation type and neuronal aging.
Neurobiology of disease - 1 Oct 2015
Japtok Julia, Lojewski Xenia, Naumann Marcel, Klingenstein Moritz, Reinhardt Peter, Sterneckert Jared, Putz Stefan, Demestre Maria, Boeckers Tobias M, Ludolph Albert C, Liebau Stefan, Storch Alexander, Hermann Andreas
Abstract excerpt
Autosomal-dominant mutations within the gene FUS (fused in sarcoma) are responsible for 5% of familial cases of amyotrophic lateral sclerosis (ALS). The FUS protein is physiologically mainly located in the nucleus, while cytoplasmic FUS aggregates are pathological hallmarks of FUS-ALS. Data from non-neuronal cell models and/or models using heterologous expression of FUS mutants suggest cytoplasmic FUS...
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