Tandem repeats mediating genetic plasticity in health and disease
AJ Hannan - Nature Reviews Genetics, 2018 - nature.com
Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that
distinguish them from other genetic variants, including the fact that they are more liable to …
distinguish them from other genetic variants, including the fact that they are more liable to …
The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease
A nucleotide repeat expansion (NRE) within the chromosome 9 open reading frame 72
(C9orf72) gene was the first of this type of mutation to be linked to multiple neurological …
(C9orf72) gene was the first of this type of mutation to be linked to multiple neurological …
C9orf72 BAC mouse model with motor deficits and neurodegenerative features of ALS/FTD
To define how the C9orf72 GGGGCC expansion mutation causes ALS/FTD and to facilitate
therapy development, a mouse model that recapitulates the molecular and phenotypic …
therapy development, a mouse model that recapitulates the molecular and phenotypic …
[HTML][HTML] Elimination of toxic microsatellite repeat expansion RNA by RNA-targeting Cas9
Microsatellite repeat expansions in DNA produce pathogenic RNA species that cause
dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2) …
dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2) …
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration
Expanded hexanucleotide repeats in the chromosome 9 open reading frame 72 (C9orf72)
gene are the most common genetic cause of ALS and frontotemporal degeneration (FTD) …
gene are the most common genetic cause of ALS and frontotemporal degeneration (FTD) …
Non-ATG–initiated translation directed by microsatellite expansions
T Zu, B Gibbens, NS Doty… - Proceedings of the …, 2011 - National Acad Sciences
Trinucleotide expansions cause disease by both protein-and RNA-mediated mechanisms.
Unexpectedly, we discovered that CAG expansion constructs express homopolymeric …
Unexpectedly, we discovered that CAG expansion constructs express homopolymeric …
R loops and links to human disease
P Richard, JL Manley - Journal of molecular biology, 2017 - Elsevier
Aberrant R-loop structures are increasingly being realized as an important contributor to
human disease. R loops, which are mainly co-transcriptional, abundant RNA/DNA hybrids …
human disease. R loops, which are mainly co-transcriptional, abundant RNA/DNA hybrids …
Disease-associated repeat instability and mismatch repair
MHM Schmidt, CE Pearson - DNA repair, 2016 - Elsevier
Expanded tandem repeat sequences in DNA are associated with at least 40 human genetic
neurological, neurodegenerative, and neuromuscular diseases. Repeat expansion can …
neurological, neurodegenerative, and neuromuscular diseases. Repeat expansion can …
The disease-associated r (GGGGCC) n repeat from the C9orf72 gene forms tract length-dependent uni-and multimolecular RNA G-quadruplex structures
Certain DNA and RNA sequences can form G-quadruplexes, which can affect promoter
activity, genetic instability, RNA splicing, translation, and neurite mRNA localization …
activity, genetic instability, RNA splicing, translation, and neurite mRNA localization …
Regulation of chromatin structure by long noncoding RNAs: focus on natural antisense transcripts
In the decade following the publication of the Human Genome, noncoding RNAs (ncRNAs)
have reshaped our understanding of the broad landscape of genome regulation. During this …
have reshaped our understanding of the broad landscape of genome regulation. During this …