ArticleCell cycle (Georgetown, Tex.)2014
Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo.
Article in Cell cycle (Georgetown, Tex.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 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
38 citing papers in PubMed, 53 citations in OpenAlex.
- Nigrostriatal Degeneration Underpins Sensorimotor Dysfunction in an Inducible Mouse Model of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).International journal of molecular sciences · 2025Article
- Review
- Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders.International journal of molecular sciences · 2024Article
- Effects of Soy Protein Isolate on Fragile X Phenotypes in Mice.Nutrients · 2024Article
- Dissecting the roles of EIF4G homologs reveals DAP5 as a modifier of CGG repeat-associated toxicity in a Drosophila model of FXTAS.Neurobiology of disease · 2023Article
- Mouse models of fragile X-related disorders.Disease models & mechanisms · 2023Review
- From circuits to behavior: Amygdala dysfunction in fragile X syndrome.Frontiers in integrative neuroscience · 2023Review
- CGG repeat expansion inProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.Cerebellum (London, England) · 2022Article
- Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes.International journal of molecular sciences · 2021Review
- Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-LinkedInternational journal of molecular sciences · 2021Article
- Short antisense oligonucleotides alleviate the pleiotropic toxicity of RNA harboring expanded CGG repeats.Nature communications · 2021Article
- Inducible expression of humanDisease models & mechanisms · 2021Article
- Therapeutic Development for CGG Repeat Expansion-Associated Neurodegeneration.Frontiers in cellular neuroscience · 2021Article
- Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene.Human genetics · 2020Article
- RNA toxicity in non-coding repeat expansion disorders.The EMBO journal · 2020Review
- Review
- Metabolic Alterations inFrontiers in molecular biosciences · 2020Review
- Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive Aggregates.Frontiers in molecular biosciences · 2020Article
- Reduction of Fmr1 mRNA Levels Rescues Pathological Features in Cortical Neurons in a Model of FXTAS.Molecular therapy. Nucleic acids · 2019Article
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12 authors at 3 institutions in 2 countries.
Funding
Abstract
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting carriers of premutation forms of the FMR1 gene, resulting in a progressive development of tremor, ataxia and neuropsychological problems. The disease is caused by an expanded CGG repeat in the FMR1 gene, leading to an RNA gain-of-function toxicity mechanism. In order to study the pathogenesis of FXTAS, new inducible transgenic mouse models have been developed that expresses either 11CGGs or 90CGGs at the RNA level under control of a Tet-On promoter. When bred to an hnRNP-rtTA driver line, doxycycline (dox) induced expression of the transgene could be found in almost all tissues. Dox exposure resulted in loss of weight and death within 5 d for the 90CGG RNA expressing mice. Immunohistochemical examination of tissues of these mice revealed steatosis and apoptosis in the liver. Decreased expression of GPX1 and increased expression of cytochrome C is found. These effects were not seen in mice expressing a normal sized 11CGG repeat. In conclusion, we were able to show in vivo that expression of an expanded CGG-repeat rather than overexpression of a normal CGG-repeat causes pathology. In addition, we have shown that expanded CGG RNA expression can cause mitochondrial dysfunction by regulating expression levels of several markers. Although FTXAS patients do not display liver abnormalities, our findings contribute to understanding of the molecular mechanisms underlying toxicity of CGG repeat RNA expression in an animal model. In addition, the dox inducible mouse lines offer new opportunities to study therapeutic interventions for FXTAS.
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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.