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@ARTICLE{GruijsdaSilva:163509,
author = {Gruijs da Silva, Lara Aletta and Simonetti, Francesca and
Hutten, Saskia and Riemenschneider, Henrick and Sternburg,
Erin L and Pietrek, Lisa M and Gebel, Jakob and Dötsch,
Volker and Edbauer, Dieter and Hummer, Gerhard and Stelzl,
Lukas S and Dormann, Dorothee},
title = {{D}isease-linked {TDP}-43 hyperphosphorylation suppresses
{TDP}-43 condensation and aggregation.},
journal = {The EMBO journal},
volume = {41},
number = {8},
issn = {1460-2075},
address = {Hoboken, NJ [u.a.]},
publisher = {Wiley},
reportid = {DZNE-2022-00269},
pages = {e108443},
year = {2022},
note = {(CC BY)},
abstract = {Post-translational modifications (PTMs) have emerged as key
modulators of protein phase separation and have been linked
to protein aggregation in neurodegenerative disorders. The
major aggregating protein in amyotrophic lateral sclerosis
and frontotemporal dementia, the RNA-binding protein TAR
DNA-binding protein (TDP-43), is hyperphosphorylated in
disease on several C-terminal serine residues, a process
generally believed to promote TDP-43 aggregation. Here, we
however find that Casein kinase 1δ-mediated TDP-43
hyperphosphorylation or C-terminal phosphomimetic mutations
reduce TDP-43 phase separation and aggregation, and instead
render TDP-43 condensates more liquid-like and dynamic.
Multi-scale molecular dynamics simulations reveal reduced
homotypic interactions of TDP-43 low-complexity domains
through enhanced solvation of phosphomimetic residues.
Cellular experiments show that phosphomimetic substitutions
do not affect nuclear import or RNA regulatory functions of
TDP-43, but suppress accumulation of TDP-43 in membrane-less
organelles and promote its solubility in neurons. We
speculate that TDP-43 hyperphosphorylation may be a
protective cellular response to counteract TDP-43
aggregation.},
keywords = {Amyotrophic Lateral Sclerosis: genetics / Amyotrophic
Lateral Sclerosis: metabolism / DNA-Binding Proteins:
metabolism / Frontotemporal Dementia / Humans / Protein
Aggregates / RNA-Binding Proteins: genetics / RNA-Binding
Proteins: metabolism / RNA-binding protein (Other) / TDP-43
(Other) / neurodegeneration (Other) / phase separation
(Other) / phosphorylation (Other)},
cin = {Ext LMU / AG Edbauer},
ddc = {570},
cid = {I:(DE-2719)5000048 / I:(DE-2719)1110004},
pnm = {352 - Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-352},
typ = {PUB:(DE-HGF)16},
pmc = {pmc:PMC9016352},
pubmed = {pmid:35112738},
doi = {10.15252/embj.2021108443},
url = {https://pub.dzne.de/record/163509},
}