Trinucleotide repeat expansions catalyzed by human cell-free extracts [PDF]
Cell Research, 2013 Trinucleotide repeat expansions cause 17 heritable human neurological disorders. In some diseases, somatic expansions occur in non-proliferating tissues such as brain where DNA replication is limited. This finding stimulated significant interest in replication-independent expansion mechanisms.
Jennifer R. Stevens +3 more
openalex +4 more sources
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 Rolfsmeier +2 more
openalex +3 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 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 ...
Guy‐Franck Richard
openalex +5 more sources
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 +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 +2 more sources
CRISPR/Cas9-induced (CTG⋅CAG)n repeat instability in the myotonic dystrophy type 1 locus: implications for therapeutic genome editing [PDF]
, 2017 Myotonic dystrophy type 1 (DM1) is caused by (CTG⋅CAG)n-repeat expansion within the DMPK gene and thought to be mediated by a toxic RNA gain of function.
André, Laurène M. +11 more
core +8 more sources
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
doaj +1 more source
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
DNA repair in the trinucleotide repeat disorders [PDF]
, 2017 Background Inherited diseases caused by unstable repeated DNA sequences are rare, but together represent a substantial cause of morbidity. Trinucleotide repeat disorders are severe, usually life-shortening, neurological disorders caused by nucleotide ...
Houlden, Henry +2 more
core +2 more sources