ArticleCell chemical biology2017
c9orf72 Disease-Related Foci Are Each Composed of One Mutant Expanded Repeat RNA.
Article in Cell chemical biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed.
- Article
- Enhanced hybridization-proximity labeling discovers protein interactomes of single RNA molecules.Nature communications · 2025Article
- Screens in aging-relevant human ALS-motor neurons identify MAP4Ks as therapeutic targets for the disease.Cell death & disease · 2024Article
- The ALS/FTD-related C9orf72 hexanucleotide repeat expansion forms RNA condensates through multimolecular G-quadruplexes.Nature communications · 2023Article
- Block or degrade? Balancing on- and off-target effects of antisense strategies against transcripts with expanded triplet repeats in DM1.Molecular therapy. Nucleic acids · 2023Article
- FTLD Patient-Derived Fibroblasts Show Defective Mitochondrial Function and Accumulation of p62.Molecular neurobiology · 2021Article
- Enhanced detection of expanded repeat mRNA foci with hybridization chain reaction.Acta neuropathologica communications · 2021Article
- Inducible expression of humanDisease models & mechanisms · 2021Article
- RNA Is a Double-Edged Sword in ALS Pathogenesis.Frontiers in cellular neuroscience · 2021Review
- Review
- Examining the relationship between astrocyte dysfunction and neurodegeneration in ALS using hiPSCs.Neurobiology of disease · 2019Review
- Quantitative Studies of Muscleblind Proteins and Their Interaction With TCF4 RNA Foci Support Involvement in the Mechanism of Fuchs' Dystrophy.Investigative ophthalmology & visual science · 2019Article
- Targeting RNA-Mediated Toxicity in C9orf72 ALS and/or FTD by RNAi-Based Gene Therapy.Molecular therapy. Nucleic acids · 2019Article
- Artificial MicroRNAs Targeting C9orf72 Can Reduce Accumulation of Intra-nuclear Transcripts in ALS and FTD Patients.Molecular therapy. Nucleic acids · 2019Article
- Neurons Induced From Fibroblasts of c9ALS/FTD Patients Reproduce the Pathology Seen in the Central Nervous System.Frontiers in neuroscience · 2019Article
- Molecular Mechanisms of Neurodegeneration Related toBehavioural neurology · 2019Review
- Non-coding RNA inNon-coding RNA research · 2018Review
- The Role of RNA in Biological Phase Separations.Journal of molecular biology · 2018Review
- Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy.Scientific reports · 2018Article
- Oligonucleotides targeting TCF4 triplet repeat expansion inhibit RNA foci and mis-splicing in Fuchs' dystrophy.Human molecular genetics · 2018Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
The chromosome 9 open reading frame 72 (c9orf72) gene contains a hexanucleotide (GGGGCC) repeat expansion responsible for many cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The mutant intronic RNA forms "foci" within nuclei, but the connection between transcript expression, foci, and biochemical disease mechanisms is unclear. Knowing the absolute numbers of cellular RNAs, in any system, is important for understanding the molecular mechanisms of natural physiology, disease, and drug action. Absolute numbers, however, are rarely determined, and this absence is a major impediment to understanding complex systems. Using quantitative methods, we demonstrate that foci are single RNA molecules. Most cells have no foci while 1%-2% have more than ten. Knowing the number of disease-causing molecules may contribute to understanding ALS and FTD pathology and successful drug discovery. More broadly, our data suggest that small numbers of RNA molecules may have a sizable impact on disease.
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Registered trials
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