Chronic Exposure to Cadmium and Antioxidants Does Not Affect the Dynamics of Expanded CAG•CTG Trinucleotide Repeats in a Mouse Cell Culture System of Unstable DNA [PDF]
Frontiers in Cellular Neuroscience, 2021 More than 30 human disorders are caused by the expansion of simple sequence DNA repeats, among which triplet repeats remain the most frequent. Most trinucleotide repeat expansion disorders affect primarily the nervous system, through mechanisms of ...
Mário Gomes-Pereira, Darren G. Monckton
doaj +4 more sources
Effect of Trinucleotide Repeat Expansion on the Expression of TCF4 mRNA in Fuchs' Endothelial Corneal Dystrophy. [PDF]
Invest Ophthalmol Vis Sci, 2019 Purpose CTG trinucleotide repeat (TNR) expansion is frequently found in transcription factor 4 (TCF4) in Fuchs' endothelial corneal dystrophy (FECD), though the effect of TNR expansion on FECD pathophysiology remains unclear.
Okumura N +18 more
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Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy. [PDF]
Eye (Lond), 2020 Okumura N +14 more
europepmc +4 more sources
Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons [PDF]
Cell Reports, 2015 Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from a CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene.
Chul-Yong Park +7 more
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Crosstalk between MSH2-MSH3 and polβ promotes trinucleotide repeat expansion during base excision repair. [PDF]
Nat Commun, 2016 Studies in knockout mice provide evidence that MSH2–MSH3 and the BER machinery promote trinucleotide repeat (TNR) expansion, yet how these two different repair pathways cause the mutation is unknown. Here we report the first molecular crosstalk mechanism,
Lai Y +6 more
europepmc +3 more sources
Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases. [PDF]
Front Mol Neurosci, 2013 Trinucleotide-repeat expansion diseases (TREDs) are a group of inherited human genetic disorders normally involving late-onset neurological/neurodegenerative affectation.
Martí E, Estivill X.
europepmc +3 more sources
Structural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases. [PDF]
BiomoleculesDynamic mutations in some human genes containing trinucleotide repeats are associated with severe neurodegenerative and neuromuscular disorders—known as Trinucleotide (or Triplet) Repeat Expansion Diseases (TREDs)—which arise when the repeat number of ...
Pan F +4 more
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Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy. [PDF]
Invest Ophthalmol Vis Sci, 2017 Purpose To identify RNA missplicing events in human corneal endothelial tissue isolated from Fuchs' endothelial corneal dystrophy (FECD). Methods Total RNA was isolated and sequenced from corneal endothelial tissue obtained during keratoplasty from 12 ...
Wieben ED +11 more
europepmc +4 more sources
A universal mechanism ties genotype to phenotype in trinucleotide diseases. [PDF]
PLoS Computational Biology, 2007 Trinucleotide hereditary diseases such as Huntington disease and Friedreich ataxia are cureless diseases associated with inheriting an abnormally large number of DNA trinucleotide repeats in a gene.
Shai Kaplan +2 more
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Mismatch Repair Blocks Expansions of Interrupted Trinucleotide Repeats in Yeast [PDF]
Molecular Cell, 2000 Disease-causing expansions of trinucleotide repeats (TNRs) can occur very frequently. In contrast, expansions are rare if the TNR is interrupted (imperfect). The molecular mechanism stabilizing interrupted alleles and thereby preventing disease has been elusive.
Michael J Dixon +4 more
openaire +4 more sources