Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice. [PDF]
Nat GenetMatuszek Z +20 more
europepmc +2 more sources
Chinese Journal of Contemporary Neurology and Neurosurgery, 2023 Objective To report the clinical and pathological features of 4 patients with oculopharyngodistal myopathy type 1 (OPDM1) caused by CGG repeat expansion in the 5'untranslated region (5'UTR) of LRP12 gene.
YU Jia‑xi +5 more
doaj +1 more source
The 26S proteasome drives trinucleotide repeat expansions [PDF]
Nucleic Acids Research, 2013 Trinucleotide repeat (TNR) expansion is the causative mutation for at least 17 inherited neurological diseases. An important question in the field is which proteins drive the expansion process. This study reports that the multi-functional protein Sem1 is a novel driver of TNR expansions in budding yeast. Mutants of SEM1 suppress up to 90% of expansions.
Concannon, C., Lahue, R. S.
openaire +3 more sources
The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions [PDF]
Cells, 2021 Trinucleotide repeats are a peculiar class of microsatellites whose expansions are responsible for approximately 30 human neurological or developmental disorders. The molecular mechanisms responsible for these expansions in humans are not totally understood, but experiments in model systems such as yeast, transgenic mice, and human cells have brought ...
openaire +3 more sources
Expansion of GAA trinucleotide repeats in mammals
Genomics, 2006 We have previously shown that GAA trinucleotide repeats have undergone significant expansion in the human genome. Here we present the analysis of the length distribution of all 10 nonredundant trinucleotide repeat motifs in 20 complete eukaryotic genomes (6 mammalian, 2 nonmammalian vertebrates, 4 arthropods, 4 fungi, and 1 each of nematode, amoebozoa,
Sanjay I. Bidichandani +4 more
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Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing
Genome Medicine, 2017 Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably.
Qian Liu +4 more
doaj +1 more source
GFP-based fluorescence assay for CAG repeat instability in cultured human cells. [PDF]
PLoS ONE, 2014 Trinucleotide repeats can be highly unstable, mutating far more frequently than point mutations. Repeats typically mutate by addition or loss of units of the repeat.
Beatriz A Santillan +3 more
doaj +1 more source
Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy
Annals of Clinical and Translational Neurology, 2020 Objective Trinucleotide GGC repeat expansion in the 5’UTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID).
Pu Fang +11 more
doaj +1 more source
Variation within the Huntington's disease gene influences normal brain structure. [PDF]
PLoS ONE, 2012 Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we
Mark Mühlau +9 more
doaj +1 more source
TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases. [PDF]
PLoS ONE, 2017 Fuchs' endothelial corneal dystrophy (FECD) is a progressive, vision impairing disease. Common single nucleotide polymorphisms (SNPs) and a trinucleotide repeat polymorphism, thymine-guanine-cytosine (TGC), in the TCF4 gene have been associated with the ...
Abraham Kuot +7 more
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