On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability
AN Khristich, SM Mirkin - Journal of Biological Chemistry, 2020 - ASBMB
Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
majority of which are severe, degenerative, and not currently treatable or preventable. In this …
Mechanisms of trinucleotide repeat instability during human development
CT McMurray - Nature Reviews Genetics, 2010 - nature.com
Trinucleotide expansion underlies several human diseases. Expansion occurs during
multiple stages of human development in different cell types, and is sensitive to the gender …
multiple stages of human development in different cell types, and is sensitive to the gender …
[HTML][HTML] CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome
Fragile X-associated tremor ataxia syndrome (FXTAS) results from a CGG repeat expansion
in the 5′ UTR of FMR1. This repeat is thought to elicit toxicity as RNA, yet disease brains …
in the 5′ UTR of FMR1. This repeat is thought to elicit toxicity as RNA, yet disease brains …
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome
R Hagerman, P Hagerman - The Lancet Neurology, 2013 - thelancet.com
Fragile X syndrome, the most common heritable form of cognitive impairment, is caused by
epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (> 200 repeats) …
epigenetic silencing of the fragile X (FMR1) gene owing to large expansions (> 200 repeats) …
Repeat instability as the basis for human diseases and as a potential target for therapy
A López Castel, JD Cleary, CE Pearson - Nature reviews Molecular cell …, 2010 - nature.com
Expansions of repetitive DNA sequences cause numerous human neurological and
neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease …
neuromuscular diseases. Ongoing repeat expansions in patients can exacerbate disease …
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative
disorder caused by the expansion of 55–200 CGG repeats in the 5′ UTR of FMR1. These …
disorder caused by the expansion of 55–200 CGG repeats in the 5′ UTR of FMR1. These …
Translation of expanded CGG repeats into FMRpolyG is pathogenic and may contribute to fragile X tremor ataxia syndrome
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder
caused by a limited expansion of CGG repeats in the 5′ UTR of FMR1. Two mechanisms …
caused by a limited expansion of CGG repeats in the 5′ UTR of FMR1. Two mechanisms …
The biological effects of simple tandem repeats: lessons from the repeat expansion diseases
K Usdin - Genome research, 2008 - genome.cshlp.org
Tandem repeats are common features of both prokaryote and eukaryote genomes, where
they can be found not only in intergenic regions but also in both the noncoding and coding …
they can be found not only in intergenic regions but also in both the noncoding and coding …
CGG repeat in the FMR1 gene: size matters
R Willemsen, J Levenga, BA Oostra - Clinical genetics, 2011 - Wiley Online Library
Willemsen R, Levenga J, Oostra BA. CGG repeat in the FMR1 gene: size matters. The FMR1
gene contains a CGG repeat present in the 5′‐untranslated region which can be unstable …
gene contains a CGG repeat present in the 5′‐untranslated region which can be unstable …
Of men and mice: modeling the fragile X syndrome
R Dahlhaus - Frontiers in molecular neuroscience, 2018 - frontiersin.org
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual
disability in all human societies. Caused by the transcriptional silencing of a single gene, the …
disability in all human societies. Caused by the transcriptional silencing of a single gene, the …