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Article

Pathology of three ALS patients with FUS variants, including one likely benign Q23L variant lacking FUS inclusions.

Human molecular genetics - 3 Sept 2025

Stenvall Erica, Grönlund Kornelia Åman, Rohan Zdenek, Zetterström Per, Nordin Angelica, Forsberg Karin

Abstract excerpt

Fused in sarcoma (FUS) is an RNA-binding protein implicated in juvenile amyotrophic lateral sclerosis (ALS). Mutations in the FUS gene, particularly those affecting the nuclear localization signal (NLS), impair nuclear import and lead to cytoplasmic accumulation of FUS inclusions in motor neurons. However, the pathological and clinical significance of FUS variants outside the NLS remains less understood. Here, we...

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Identifiers

PMID: 40659544
DOI: 10.1093/hmg/ddaf119
PMCID: PMC12409623

Genes

FUS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Pathology of three ALS patients with FUS variants, including one likely benign Q23L variant lacking FUS inclusions.PMID 40659544Read ↗

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