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Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains
Journal article   Open access   Peer reviewed

Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains

Lin Guo, Hong Joo Kim, Hejia Wang, John Monaghan, Fernande Freyermuth, Julie C. Sung, Kevin O’Donovan, Charlotte M. Fare, Zamia Diaz, Nikita Singh, …
Cell, v 173(3), pp 677-692
19 Apr 2018
PMID: 29677512
url
https://doi.org/10.1016/j.cell.2018.03.002View
Published, Version of Record (VoR)Open Access (Publisher-Specific) Open

Abstract

ALS disaggregase FTD FUS hnRNPA1 Karyopherin-β2 neurodegeneration Nuclear-important receptor phase transition TDP-43
RNA-binding proteins (RBPs) with prion-like domains (PrLDs) phase transition to functional liquids, which can mature into aberrant hydrogels composed of pathological fibrils that underpin fatal neurodegenerative disorders. Several nuclear RBPs with PrLDs, including TDP-43, FUS, hnRNPA1, and hnRNPA2, mislocalize to cytoplasmic inclusions in neurodegenerative disorders, and mutations in their PrLDs can accelerate fibrillization and cause disease. Here, we establish that nuclear-import receptors (NIRs) specifically chaperone and potently disaggregate wild-type and disease-linked RBPs bearing a NLS. Karyopherin-β2 (also called Transportin-1) engages PY-NLSs to inhibit and reverse FUS, TAF15, EWSR1, hnRNPA1, and hnRNPA2 fibrillization, whereas Importin-α plus Karyopherin-β1 prevent and reverse TDP-43 fibrillization. Remarkably, Karyopherin-β2 dissolves phase-separated liquids and aberrant fibrillar hydrogels formed by FUS and hnRNPA1. In vivo, Karyopherin-β2 prevents RBPs with PY-NLSs accumulating in stress granules, restores nuclear RBP localization and function, and rescues degeneration caused by disease-linked FUS and hnRNPA2. Thus, NIRs therapeutically restore RBP homeostasis and mitigate neurodegeneration. [Display omitted] •Nuclear-localization sequences (NLSs) are disaggregation signals in the cytoplasm•Nuclear-import receptors (NIRs) disaggregate NLS-bearing cargo in the cytoplasm•NIRs reverse phase separation by RNA-binding proteins with prion-like domains•NIRs rescue degeneration caused by disease-linked FUS and hnRNPA2 in vivo Nuclear-import receptors can reverse phase separation and aggregation of proteins with prion-like domains, including FUS and TDP-43, to mitigate neurodegeneration in vivo.

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Collaboration types
Domestic collaboration
International collaboration
Web of Science research areas
Biochemistry & Molecular Biology
Cell Biology
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