• Molekuliarnaia biologiia · May 2017

    Review

    [The FUS protein: Physiological functions and a role in amyotrophic lateral sclerosis].

    • A D Efimova, R K Ovchinnikov, A Yu Roman, A V Maltsev, V V Grigoriev, E A Kovrazhkina, and V I Skvortsova.
    • Institute of Physiologically Active Compounds, Russian Academy of Sciences, Chernogolovka, Moscow oblast, 142432 Russia.
    • Mol. Biol. (Mosk.). 2017 May 1; 51 (3): 387-399.

    AbstractCertain forms of amyotrophic lateral sclerosis (ALS) are associated with an altered compartmentalization of FUS and its aggregation in the cytoplasm of motoneurons. FUS is a DNA/RNA-binding protein that is involved in DNA repair and the regulation of transcription, splicing, RNA transport, and local translation. Two theories have been proposed to explain the mechanism of the pathophysiological process in ALS. The theories attribute degeneration of motor neurons to either loss or gain of FUS function. The review describes the main physiological functions of FUS and considers evidence for each of the theories of ALS pathogenesis.

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