The Role of NRF2 in Trinucleotide Repeat Expansion Disorders [PDF]
AntioxidantsTrinucleotide repeat expansion disorders, a diverse group of neurodegenerative diseases, are caused by abnormal expansions within specific genes. These expansions trigger a cascade of cellular damage, including protein aggregation and abnormal RNA ...
Kuo-Hsuan Chang, Chiung-Mei Chen
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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 ...
Feng Pan +4 more
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CTG trinucleotide repeat "big jumps": large expansions, small mice. [PDF]
PLoS Genetics, 2007 Trinucleotide repeat expansions are the genetic cause of numerous human diseases, including fragile X mental retardation, Huntington disease, and myotonic dystrophy type 1.
Mário Gomes-Pereira +6 more
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Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4. [PDF]
PLoS ONE, 2018 Fuchs Endothelial Corneal Dystrophy (FECD) is a late onset, autosomal dominant eye disease that can lead to loss of vision. Expansion of a CTG trinucleotide repeat in the third intron of the transcription factor 4 (TCF4) gene is highly associated with ...
Eric D Wieben +7 more
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Loss of Corneal Nerves and Corneal Haze in Patients with Fuchs’ Endothelial Corneal Dystrophy with the Transcription Factor 4 Gene Trinucleotide Repeat Expansion [PDF]
Ophthalmology Science, 2023 Objective: Seventy percent of Fuchs’ endothelial corneal dystrophy (FECD) cases are caused by an intronic trinucleotide repeat expansion in the transcription factor 4 gene (TCF4). The objective of this study was to characterize the corneal subbasal nerve
Matthew Gillings, MD +8 more
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Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia [PDF]
BioTechniques, 2011 Friedreich ataxia is a neurodegenerative disorder caused by the expansion of a GAA trinucleotide repeat sequence within the first intron of the FXN gene.
Timothy P. Holloway +3 more
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The TCF4 Trinucleotide Repeat Expansion of Fuchs' Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye. [PDF]
Invest Ophthalmol Vis Sci, 2023 Hu J +4 more
europepmc +2 more sources
Small non-coding RNAs add complexity to the RNA pathogenic mechanisms in trinucleotide repeat expansion diseases [PDF]
Frontiers in Molecular Neuroscience, 2013 Trinucleotide-repeat expansion diseases (TREDs) are a group of inherited human genetic disorders normally involving late-onset neurological/neurodegenerative affectation.
Eulalia eMarti +3 more
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A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. [PDF]
PLoS ONE, 2012 Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation.
Eric D Wieben +6 more
doaj +3 more sources
Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases [PDF]
Journal of Nucleic Acids, 2013 Previous studies have examined DNA methylation in different trinucleotide repeat diseases. We have combined this data and used a pattern searching algorithm to identify motifs in the DNA surrounding aberrantly methylated CpGs found in the DNA of ...
Mohammadmersad Ghorbani +3 more
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