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Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.

Human molecular genetics - 1 Dec 2013

Sabatelli Mario, Moncada Alice, Conte Amelia, Lattante Serena, Marangi Giuseppe, Luigetti Marco, Lucchini Matteo, Mirabella Massimiliano, Romano Angela, Del Grande Alessandra, Bisogni Giulia, Doronzio Paolo Niccolo', Rossini Paolo Maria, Zollino Marcella

Abstract excerpt

Mutations in the gene encoding fused-in-sarcoma (FUS) have been identified in a subset of patients with sporadic and familial amyotrophic lateral sclerosis (ALS). Variants in the 3' untranslated region (3'UTR) of FUS have also been reported in ALS patients, but their pathogenic role has not been assessed. We sequenced the whole 3'UTR of FUS in 420 ALS patients who were negative for mutations in the currently...

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Identifiers

PMID: 23847048
DOI: 10.1093/hmg/ddt328

Genes

FUS

Variants

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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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