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Article

Genome wide array analysis indicates that an amyotrophic lateral sclerosis mutation of FUS causes an early increase of CAMK2N2 in vitro.

Biochimica et biophysica acta - 1 Aug 2013

Convertini Paolo, Zhang Jiayu, de la Grange Pierre, Hayward Lawrence J, Zhu Haining, Stamm Stefan

Abstract excerpt

Mutations in the RNA binding protein FUS (fused in sarcoma) have been linked to a subset of familial amyotrophic lateral sclerosis (ALS) cases. The mutations are clustered in the C-terminal nuclear localization sequence (NLS). Various FUS mutants accumulate in the cytoplasm whereas wild-type (WT) FUS is mainly nuclear. Here we investigate the effect of one ALS causing mutant (FUS-ΔNLS, also known as R495X) on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23545117
DOI: 10.1016/j.bbadis.2013.03.015
PMCID: PMC3679306

Genes

FUS

Variants

Provenance

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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Genome wide array analysis indicates that an amyotrophic lateral sclerosis mutation of FUS causes an early increase of CAMK2N2 in vitro.PMID 23545117Read ↗

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Synaptic FUS accumulation triggers early misregulation of synaptic RNAs in a mouse model of ALSSemantic proximity Read ↗

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

ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation.Semantic proximity Read ↗

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Cytoplasmic aggregation of mutant FUS causes multistep RNA splicing perturbations in the course of motor neuron pathology.Semantic proximity Read ↗

FUS is sequestered in nuclear aggregates in ALS patient fibroblastsSemantic proximity Read ↗

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