Results 1 to 10 of about 9,550 (135)
Suppression of trinucleotide repeat expansion in spermatogenic cells in Huntington's disease. [PDF]
J Assist Reprod Genet, 2022 AbstractTrinucleotide repeats (TNRs) are dispersed throughout the human genome. About 20 loci are related to human diseases, such as Huntington’s disease (HD). A larger TNR instability is predominantly observed in the paternal germ cells in some TNR disorders.
Cho IK, Easley CA, Chan AWS.
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Trinucleotide Repeat Expansion Diseases, RNAi, and Cancer. [PDF]
Trends Cancer, 2018 Many neurodegenerative diseases are caused by unstable trinucleotide repeat (TNR) expansions located in disease-associated genes. siRNAs based on CAG repeat expansions effectively kill cancer cell lines in vitro through RNAi. They also cause significant reduction in tumor growth in a human ovarian cancer mouse model with no toxicity to the treated mice.
Murmann AE, Yu J, Opal P, Peter ME.
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The Role of NRF2 in Trinucleotide Repeat Expansion Disorders [PDF]
Antioxidants (Basel)Trinucleotide 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 binding.
Chang K, Chen C.
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DNA base excision repair: a mechanism of trinucleotide repeat expansion. [PDF]
Trends Biochem Sci, 2012 The expansion of trinucleotide repeat (TNR) sequences in human DNA is considered to be a key factor in the pathogenesis of more than 40 neurodegenerative diseases. TNR expansion occurs during DNA replication and also, as suggested by recent studies, during the repair of DNA lesions produced by oxidative stress.
Liu Y, Wilson SH.
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RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility [PDF]
Cell Reports, 2014 Human RTEL1 is an essential, multifunctional helicase that maintains telomeres, regulates homologous recombination, and helps prevent bone marrow failure. Here, we show that RTEL1 also blocks trinucleotide repeat expansions, the causal mutation for 17 neurological diseases.
Frizzell, Aisling +6 more
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Replication and Expansion of Trinucleotide Repeats in Yeast [PDF]
Molecular and Cellular Biology, 2003 The mechanisms of trinucleotide repeat expansions, underlying more than a dozen hereditary neurological disorders, are yet to be understood. Here we looked at the replication of (CGG)(n) x (CCG)(n) and (CAG)(n) x (CTG)(n) repeats and their propensity to expand in Saccharomyces cerevisiae.
George M. Samadashwily +4 more
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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.
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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 ...
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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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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.
Stevens, Jennifer R +3 more
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