Drugging DNA Damage Repair Pathways for Trinucleotide Repeat Expansion Diseases. [PDF]
J Huntingtons Dis, 2021 DNA damage repair (DDR) mechanisms have been implicated in a number of neurodegenerative diseases (both genetically determined and sporadic). Consistent with this, recent genome-wide association studies in Huntington’s disease (HD) and other trinucleotide repeat expansion diseases have highlighted genes involved in DDR mechanisms as modifiers for age ...
Benn CL, Gibson KR, Reynolds DS.
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Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy. [PDF]
Invest Ophthalmol Vis Sci, 2019 Wieben ED +7 more
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Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy. [PDF]
Invest Ophthalmol Vis Sci, 2014 Mootha VV, Gong X, Ku HC, Xing C.
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Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene. [PDF]
PLoS One, 2017 Lim GX +7 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.
Richard Pelletier +4 more
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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
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Validation of methylation-specific polymerase chain reaction method and evaluation of FMR1 gene pre-mutations in premature ovarian insufficiency [PDF]
مجله پزشکی دانشگاه علوم پزشکی تبریز, 2022 Background. Fragile X-associated premature ovarian insufficiency is clinically defined as a type of early ovarian failure with irregular menstrual cycles, increased follicle-stimulating hormone, premature menopause, and infertility.
Fatemeh Afkhami +3 more
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Brain Sciences, 2023 Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinucleotide GGC repeats in NOTCH2NLC.
Yusran Ady Fitrah +24 more
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Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues [PDF]
, 2012 Copyright @ 2012 Bourn et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source ...
Chiranjeevi Sandi +7 more
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RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility [PDF]
Cell Reports, 2016 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.
Aisling Frizzell +6 more
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