Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

FUS-SMN protein interactions link the motor neuron diseases ALS and SMA.

Cell reports - 25 Oct 2012

Yamazaki Tomohiro, Chen Shi, Yu Yong, Yan Biao, Haertlein Tyler C, Carrasco Monica A, Tapia Juan C, Zhai Bo, Das Rita, Lalancette-Hebert Melanie, Sharma Aarti, Chandran Siddharthan, Sullivan Gareth, Nishimura Agnes Lumi, Shaw Christopher E, Gygi Steve P, Shneider Neil A, Maniatis Tom, Reed Robin

Abstract excerpt

Mutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS), a fatal adult motor neuron disease. Decreased expression of SMN causes the fatal childhood motor neuron disorder spinal muscular atrophy (SMA). The SMN complex localizes in both the cytoplasm and nuclear Gems, and loss of Gems is a cellular hallmark of fibroblasts in patients with SMA. Here, we report that FUS associates with the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyotrophic Lateral Sclerosis
Share to HeLa Cells

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

Share to Ribonucleoproteins, Small Nuclear

Share to RNA-Binding Protein FUS

Share to RNA Interference

Share to RNA, Small Interfering

Share to SMN Complex Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 23022481
DOI: 10.1016/j.celrep.2012.08.025
PMCID: PMC3483417

Genes

FUS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FUS-SMN protein interactions link the motor neuron diseases ALS and SMA.PMID 23022481Read ↗

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.Semantic proximity Read ↗

Functional interaction between FUS and SMN underlies SMA-like splicing changes in wild-type hFUS miceSemantic proximity Read ↗

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.Semantic proximity Read ↗

U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish.Semantic proximity Read ↗

Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm.Semantic proximity Read ↗

Spliceosome integrity is defective in the motor neuron diseases ALS and SMASemantic proximity Read ↗

The intriguing case of motor neuron disease: ALS and SMA come closerSemantic proximity Read ↗

RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutationsSemantic proximity Read ↗

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.Semantic proximity Read ↗

Direct Interaction of the Spinal Muscular Atrophy Disease Protein SMN with the Small Nucleolar RNA-associated Protein FibrillarinSemantic proximity Read ↗

Emerging Roles of Gemin5: From snRNPs Assembly to Translation ControlSemantic proximity Read ↗

SMN and Gemins: ‘We are family’ … or are we?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.