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Article

Selective Silencing of TDP-43 P. G376D Mutation Reverses Key Amyotrophic Lateral Sclerosis-Related Cellular Deficits.

Biomolecules - 5 Mar 2026

Romano Roberta, Ruotolo Giorgia, Perrone Francesco, Tomaselli Silvia, Mazzoni Martina, Spataro Rossella, Conforti Francesca Luisa, Rosati Jessica, Bucci Cecilia

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease for which there is currently no cure. Dominant mutations in the TARDBP gene are causative of ALS. In particular, the p. G376D substitution in TDP-43 causes familial ALS and it is associated with TDP-43 mislocalization in the cytosol, increased presence of cytoplasmic aggregates, and lysosomal and mitochondrial dysfunction. We previously designed a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41897327
DOI: 10.3390/biom16030393
PMCID: PMC13024069

Genes

TARDBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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