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Article

TDP-43 mutations link Amyotrophic Lateral Sclerosis with R-loop homeostasis and R loop-mediated DNA damage.

PLoS genetics - 1 Dec 2020

Giannini Marta, Bayona-Feliu Aleix, Sproviero Daisy, Barroso Sonia I, Cereda Cristina, Aguilera Andrés

Abstract excerpt

TDP-43 is a DNA and RNA binding protein involved in RNA processing and with structural resemblance to heterogeneous ribonucleoproteins (hnRNPs), whose depletion sensitizes neurons to double strand DNA breaks (DSBs). Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder, in which 97% of patients are familial and sporadic cases associated with TDP-43 proteinopathies and conditions clearing TDP-43 from...

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Identifiers

PMID: 33301444
DOI: 10.1371/journal.pgen.1009260
PMCID: PMC7755276

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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