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Article

Unraveling the toxic effects mediated by the neurodegenerative disease-associated S375G mutation of TDP-43 and its S375E phosphomimetic variant.

The Journal of biological chemistry - 1 Aug 2022

Paron Francesca, Barattucci Simone, Cappelli Sara, Romano Maurizio, Berlingieri Christian, Stuani Cristiana, Laurents Douglas, Mompeán Miguel, Buratti Emanuele

Abstract excerpt

TAR DNA-binding protein 43 (TDP-43) is a nucleic acid-binding protein found in the nucleus that accumulates in the cytoplasm under pathological conditions, leading to proteinopathies, such as frontotemporal dementia and ALS. An emerging area of TDP-43 research is represented by the study of its post-translational modifications, the way they are connected to disease-associated mutations, and what this means for...

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Identifiers

PMID: 35835219
DOI: 10.1016/j.jbc.2022.102252
PMCID: PMC9364110

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