ArticleFrontiers in neurology2013
Trinucleotide repeats: a structural perspective.
Article in Frontiers in neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 53 citations in OpenAlex.
- NEDAMSS syndrome-related truncating and missense mutations are associated with aberrant liquid-liquid phase separation of IRF2BPL.Nature communications · 2026Article
- Reviewing the Structure-Function Paradigm in Polyglutamine Disorders: A Synergistic Perspective on Theoretical and Experimental Approaches.International journal of molecular sciences · 2024Review
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- Pathogen-specific structural features ofmBio · 2023Article
- HSF1 and Its Role in Huntington's Disease Pathology.Advances in experimental medicine and biology · 2023Review
- Insights from analyses of low complexity regions with canonical methods for protein sequence comparison.Briefings in bioinformatics · 2022Article
- Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions.Nature reviews. Neurology · 2022Review
- PolyQ length co-evolution in neural proteins.NAR genomics and bioinformatics · 2021Article
- A worldwide map of swine short tandem repeats and their associations with evolutionary and environmental adaptations.Genetics, selection, evolution : GSE · 2021Article
- Neurodegenerative phosphoprotein signaling landscape in models of SCA3.Molecular brain · 2021Article
- APE1 distinguishes DNA substrates in exonucleolytic cleavage by induced space-filling.Nature communications · 2021Article
- Understanding APE1 cellular functions by the structural preference of exonuclease activities.Computational and structural biotechnology journal · 2021Review
- Evolution and expansion of the RUNX2 QA repeat corresponds with the emergence of vertebrate complexity.Communications biology · 2020Review
- Article
- Compound Dynamics and Combinatorial Patterns of Amino Acid Repeats Encode a System of Evolutionary and Developmental Markers.Genome biology and evolution · 2019Article
- Non-AUG translation: a new start for protein synthesis in eukaryotes.Genes & development · 2017Review
- Article
- Article
- The 2.2-Angstrom resolution crystal structure of the carboxy-terminal region of ataxin-3.FEBS open bio · 2016Article
- Ataxin-3 phosphorylation decreases neuronal defects in spinocerebellar ataxia type 3 models.The Journal of cell biology · 2016Article
Corrections and comments
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Authors and funding
4 authors at 1 institution.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Trinucleotide repeat (TNR) expansions are present in a wide range of genes involved in several neurological disorders, being directly involved in the molecular mechanisms underlying pathogenesis through modulation of gene expression and/or the function of the RNA or protein it encodes. Structural and functional information on the role of TNR sequences in RNA and protein is crucial to understand the effect of TNR expansions in neurodegeneration. Therefore, this review intends to provide to the reader a structural and functional view of TNR and encoded homopeptide expansions, with a particular emphasis on polyQ expansions and its role at inducing the self-assembly, aggregation and functional alterations of the carrier protein, which culminates in neuronal toxicity and cell death. Detail will be given to the Machado-Joseph Disease-causative and polyQ-containing protein, ataxin-3, providing clues for the impact of polyQ expansion and its flanking regions in the modulation of ataxin-3 molecular interactions, function, and aggregation.
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