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    Accumulation of TDP-43 causes karyopherin-α4 pathology that characterises amyotrophic lateral sclerosis Manpreet Singh Atwal, Jerneja Nimac, Jerneja Nimac, Urša Čerček, Urša Čerček, Sarah Ricarda Goesch, Hannah Rebecca Goesch, Paraskevi Tziortzouda, Tiziana Ercolani, Anna Zatorska, Terouz Pasha, Ivo Carre, Jacqueline Mitchell, Claire Troakes, Bart Tummers, Vera Župunski, Boris Rogelj, Boris Rogelj, Tibor Hortobágyi, Tibor Hortobágyi, Frank Hirth

    出版 2025-07-01

    Cytoplasmic mislocalisation and nuclear depletion of TDP-43 are pathological hallmarks of amyotrophic lateral sclerosis (ALS), including mutations in the C9ORF72 gene that characterise the most common genetic form of ALS (C9ALS). Studies in human cells and animal models have associated cytoplasmic m...

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