Molecular mechanisms underlying nucleotide repeat expansion disorders
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …
of these repeat tracts underlies over fifty human disorders, including common genetic …
Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions
RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …
regulation of RNA processing and transport. Alterations of these proteins impact multiple …
[HTML][HTML] RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention
A hexanucleotide GGGGCC repeat expansion in the noncoding region of the C9ORF72
gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral …
gene is the most common genetic abnormality in familial and sporadic amyotrophic lateral …
[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) …
Myotonic dystrophy
CA Thornton - Neurologic clinics, 2014 - neurologic.theclinics.com
A population-based screen to determine the genetic frequency of myotonic dystrophy (DM)
is technically feasible but has not yet been performed on a large scale. The most ambitious …
is technically feasible but has not yet been performed on a large scale. The most ambitious …
The myotonic dystrophies: molecular, clinical, and therapeutic challenges
B Udd, R Krahe - The Lancet Neurology, 2012 - thelancet.com
Myotonic dystrophy is the most common type of muscular dystrophy in adults and is
characterised by progressive myopathy, myotonia, and multiorgan involvement. Two …
characterised by progressive myopathy, myotonia, and multiorgan involvement. Two …
[HTML][HTML] RNA and disease
TA Cooper, L Wan, G Dreyfuss - Cell, 2009 - cell.com
Cellular functions depend on numerous protein-coding and noncoding RNAs and the RNA-
binding proteins associated with them, which form ribonucleoprotein complexes (RNPs) …
binding proteins associated with them, which form ribonucleoprotein complexes (RNPs) …
Expandable DNA repeats and human disease
SM Mirkin - Nature, 2007 - nature.com
Nearly 30 hereditary disorders in humans result from an increase in the number of copies of
simple repeats in genomic DNA. These DNA repeats seem to be predisposed to such …
simple repeats in genomic DNA. These DNA repeats seem to be predisposed to such …
RNA-binding proteins in human genetic disease
RNA-binding proteins (RBPs) are key components in RNA metabolism, regulating the
temporal, spatial and functional dynamics of RNAs. Altering the expression of RBPs has …
temporal, spatial and functional dynamics of RNAs. Altering the expression of RBPs has …
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
Large expansions of a non-coding GGGGCC-repeat in the first intron of the C9orf72 gene
are a common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal …
are a common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal …