Article

Early mitochondrial gene dysregulation precedes motor neuron degeneration in genomically humanised FUS mutant mice

2026-03-24

Abstract excerpt

<title>Abstract</title> <p> Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder, with mutations in the Fused in Sarcoma ( <italic>FUS</italic> ) gene accounting for some of the most aggressive forms of the disease. Although <italic>FUS</italic> mutations are rare, accounting for only around 5% of all familial ALS cases, they are an important paradigm for study because FUS is an RNA bind...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 062a7291-fc82-55a9-8240-d006897c46dd
DOI: 10.21203/rs.3.rs-9043045/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Early mitochondrial gene dysregulation precedes motor neuron degeneration in genomically humanised FUS mutant miceDOI 10.21203/rs.3.rs-9043045/v2Read

Early mitochondrial gene dysregulation precedes motor neuron degeneration in genomically humanised FUS mutant miceSemantic proximity Read

FUSDelta14 mutation impairs normal brain development and causes systemic metabolic alterationsSemantic proximity Read

Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations.Semantic proximity Read

Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis.Semantic proximity Read

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin miceSemantic proximity Read

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.Semantic proximity Read

<i>FUS</i> ALS-causative mutations impact <i>FUS</i> autoregulation and the processing of RNA-binding proteins through intron retentionSemantic proximity Read

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene.Semantic proximity Read

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashionSemantic proximity Read

Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALSSemantic proximity Read

FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.Semantic proximity Read

Generation, quality control, and analysis of the first genomically humanised knock-in mice for the ALS/FTD genes <i>SOD1, TARDBP</i> (TDP-43), and <i>FUS</i>Semantic proximity Read