Accumulation of TDP-43 causes karyopherin-α4 pathology that characterises amyotrophic lateral sclerosis

Accumulation of TDP-43 causes karyopherin-α4 pathology that characterises amyotrophic lateral sclerosis

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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Main Authors: Manpreet Singh Atwal, Jerneja Nimac, 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, Tibor Hortobágyi, Frank Hirth
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Neuroscience
Subjects:
amyotrophic lateral sclerosis
TDP-43
C9ORF72
karyopherin
KPNA4
nuclear import
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2025.1558227/full
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