ReviewRNA biology
CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders.
Review in RNA biology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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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
19 citing papers in PubMed, 45 citations in OpenAlex.
- Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12.Movement disorders : official journal of the Movement Disorder Society · 2023Article
- CAG-Repeat RNA Hairpin Folding and Recruitment to Nuclear Speckles with a Pivotal Role of ATP as a Cosolute.Journal of the American Chemical Society · 2023Article
- RNA Toxicity and Perturbation of rRNA Processing in Spinocerebellar Ataxia Type 2.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- The emerging roles of long non-coding RNAs in polyglutamine diseases.Journal of cellular and molecular medicine · 2021Review
- Clinical and genetic profile in index patients with spinocerebellar ataxia type 3 in Indonesia: case report.Heliyon · 2021Article
- An Overview of Circular RNAs and Their Implications in Myotonic Dystrophy.International journal of molecular sciences · 2019Review
- ECHO-liveFISH: in vivo RNA labeling reveals dynamic regulation of nuclear RNA foci in living tissues.Nucleic acids research · 2015Article
- The Rpe65 rd12 allele exerts a semidominant negative effect on vision in mice.Investigative ophthalmology & visual science · 2014Article
- FRA2A is a CGG repeat expansion associated with silencing of AFF3.PLoS genetics · 2014Article
- Self-duplexing CUG repeats selectively inhibit mutant huntingtin expression.Nucleic acids research · 2013Article
- RNA toxicity in polyglutamine disorders: concepts, models, and progress of research.Journal of molecular medicine (Berlin, Germany) · 2013Review
- The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures.The Journal of biological chemistry · 2013Article
- RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity.Brain research · 2012Review
- Neurodegeneration the RNA way.Progress in neurobiology · 2012Review
- An evaluation of oligonucleotide-based therapeutic strategies for polyQ diseases.BMC molecular biology · 2012Article
- Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target.Nucleic acids research · 2012Review
- Diced triplets expose neurons to RISC.PLoS genetics · 2012Article
- Cellular toxicity of expanded RNA repeats: focus on RNA foci.Human molecular genetics · 2011Review
- Expanded complexity of unstable repeat diseases.BioFactors (Oxford, England)Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Over 20 genetic loci with abnormal expansions of short tandem repeats have been associated with human hereditary neurological diseases. Of these, specific trinucleotide repeats located in non-coding and coding regions of individual genes implicated in these disorders are strongly overrepresented. Expansions of CTG, CGG and CAG repeats are linked to, respectively, myotonic dystrophy type 1 (DM1), fragile X-associated tremor/ataxia syndrome (FXTAS), as well as Huntington's disease (HD) and a number of spinocerebellar ataxias (SCAs). Expanded CAG repeats in translated exons trigger the most disorders for which a protein gain-of-function mechanism has been proposed to explain neurodegeneration by polyglutamine-rich (poly-Q) proteins. However, the results of last years showed that RNA composed of mutated CAG repeats can also be toxic and contribute to pathogenesis of polyglutamine disorders through an RNA-mediated gain-of-function mechanism. This mechanism has been best characterized in the non-coding repeat disorder DM1 and is also implicated in several other diseases, such as FXTAS, spinocerebellar ataxia type 8 (SCA8), Huntington's disease-like 2 (HDL2), as well as in myotonic dystrophy type 2 (DM2), spinocerebellar ataxia type 10 (SCA10) and type 31 (SCA31). In this review, we summarize recent findings that emphasize the participation of coding mutant CAG repeat RNA in the pathogenesis of polyglutamine disorders, and we discuss the basis of an RNA gain-of-function model in non-coding diseases such as DM1, FXTAS and SCA8.
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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.