ArticleCell reports2012
FUS-SMN protein interactions link the motor neuron diseases ALS and SMA.
Article in Cell reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 164 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
164 citing papers in PubMed, 254 citations in OpenAlex.
- Excess Met1-linked ubiquitination leads to solid aggregate formation.The EMBO journal · 2026Article
- Intranucleolar Invasion of Cajal Body Remnants Suppresses Ribosomal Biogenesis inbioRxiv : the preprint server for biology · 2026Article
- KIF5A downregulation in spinal muscular atrophy links axonal regeneration defects with ALS.JCI insight · 2026Article
- TDP-43: [GU]-ardian of the transcriptome.Molecular neurodegeneration · 2026Review
- Maintenance and disruption of the physiological dimer structure of TDP-43 in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.BMC medicine · 2026Review
- RNA-binding proteins TDP-43 and FUS promote R-loop resolution and regulate transcription termination.The Journal of biological chemistry · 2026Article
- MyomiR Networks in Spinal Muscular Atrophy: Associations With Clinical Severity and Treatment Response.Molecular neurobiology · 2026Article
- Liquid-liquid phase separation in neural development.Cellular and molecular life sciences : CMLS · 2026Review
- Functional assessment of protein variants in structured domains by fluorescence cross-correlation spectroscopy.Scientific reports · 2026Article
- Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances.Therapeutic advances in neurological disorders · 2026Review
- Using circular RNAs to target toxic RNA-binding proteins in amyotrophic lateral sclerosis.Molecular therapy. Methods & clinical development · 2025Article
- The Role of Non-Coding RNAs in ALS.Genes · 2025Review
- RNA dysregulation in neurodegenerative diseases.The EMBO journal · 2025Review
- A variant of the Hspa8 synaptic chaperone modifies disease in a SOD1Experimental neurology · 2025Article
- MicroRNAs as Biomarkers in Spinal Muscular Atrophy.Biomedicines · 2024Review
- Article
- TDP-43 in nuclear condensates: where, how, and why.Biochemical Society transactions · 2024Review
- PI4P-mediated solid-like Merlin condensates orchestrate Hippo pathway regulation.Science (New York, N.Y.) · 2024Article
- Upregulated miR-10b-5p as a potential miRNA signature in amyotrophic lateral sclerosis patients.Frontiers in cellular neuroscience · 2024Article
- Skeletal muscle in amyotrophic lateral sclerosis.Brain : a journal of neurology · 2023Review
104 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 4 institutions in 2 countries.
Funding
Abstract
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 SMN complex, mediated by U1 snRNP and by direct interactions between FUS and SMN. Functionally, we show that FUS is required for Gem formation in HeLa cells, and expression of FUS containing a severe ALS-causing mutation (R495X) also results in Gem loss. Strikingly, a reduction in Gems is observed in ALS patient fibroblasts expressing either mutant FUS or TDP-43, another ALS-causing protein that interacts with FUS. The physical and functional interactions among SMN, FUS, TDP-43, and Gems indicate that ALS and SMA share a biochemical pathway, providing strong support for the view that these motor neuron diseases are related.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.