ArticleDisease models & mechanisms2017
Genetic mutations linked to Parkinson's disease differentially control nucleolar activity in pre-symptomatic mouse models.
Article in Disease models & mechanisms, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Genetics of α-Synuclein: The Prime Pathological Player of Parkinson's Disease.Neurotoxicity research · 2026Review
- Signaling to make human ribosomes: Connections between the cytoplasm and the nucleolus.Molecular cell · 2026Review
- Clinical significance and functional characterization of RRN3 in gastric cancer: insights from pan-cancer analysis and experimental validation.Frontiers in oncology · 2026Article
- Ribosomal DNA and Neurological Disorders.Current molecular medicine · 2025Review
- Association between gene expression and functional-metabolic architecture in Parkinson's disease.Human brain mapping · 2023Article
- Rrn3 gene knockout affects ethanol-induced locomotion in adult heterozygous zebrafish.Psychopharmacology · 2022Article
- Nucleolar stress controls mutant Huntington toxicity and monitors Huntington's disease progression.Cell death & disease · 2021Article
- Location, location, location: subcellular protein partitioning in proteostasis and aging.Biophysical reviews · 2021Review
- RNA-Binding Proteins and the Complex Pathophysiology of ALS.International journal of molecular sciences · 2021Review
- DEAD-box RNA helicase Dbp4/DDX10 is an enhancer of α-synuclein toxicity and oligomerization.PLoS genetics · 2021Article
- A Peptidylic Inhibitor for NeutralizingMolecular therapy. Nucleic acids · 2019Article
- Stimulation of noradrenergic transmission by reboxetine is beneficial for a mouse model of progressive parkinsonism.Scientific reports · 2019Article
- Emerging Role of the Nucleolar Stress Response in Autophagy.Frontiers in cellular neuroscience · 2019Review
- Integration of the Deacetylase SIRT1 in the Response to Nucleolar Stress: Metabolic Implications for Neurodegenerative Diseases.Frontiers in molecular neuroscience · 2019Article
- Review
- Nucleolar Stress: hallmarks, sensing mechanism and diseases.Cell stress · 2018Review
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic mutations underlying neurodegenerative disorders impair ribosomal DNA (rDNA) transcription suggesting that nucleolar dysfunction could be a novel pathomechanism in polyglutamine diseases and in certain forms of amyotrophic lateral sclerosis/frontotemporal dementia. Here, we investigated nucleolar activity in pre-symptomatic digenic models of Parkinson's disease (PD) that model the multifactorial aetiology of this disease. To this end, we analysed a novel mouse model mildly overexpressing mutant human α-synuclein (hA53T-SNCA) in a PTEN-induced kinase 1 (PINK1/PARK6) knockout background and mutant mice lacking both DJ-1 (also known as PARK7) and PINK1. We showed that overexpressed hA53T-SNCA localizes to the nucleolus. Moreover, these mutants show a progressive reduction of rDNA transcription linked to a reduced mouse lifespan. By contrast, rDNA transcription is preserved in DJ-1/PINK1 double knockout (DKO) mice. mRNA levels of the nucleolar transcription initiation factor 1A (
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