Antisense oligonucleotides: the next frontier for treatment of neurological disorders

C Rinaldi, MJA Wood - Nature Reviews Neurology, 2018 - nature.com
Antisense oligonucleotides (ASOs) were first discovered to influence RNA processing and
modulate protein expression over two decades ago; however, progress translating these …

Sequencing and characterizing short tandem repeats in the human genome

HA Tanudisastro, IW Deveson, H Dashnow… - Nature Reviews …, 2024 - nature.com
Short tandem repeats (STRs) are highly polymorphic sequences throughout the human
genome that are composed of repeated copies of a 1–6-bp motif. Over 1 million variable …

[HTML][HTML] Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

SC Ling, M Polymenidou, DW Cleveland - Neuron, 2013 - cell.com
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …

An atlas of alternative splicing profiles and functional associations reveals new regulatory programs and genes that simultaneously express multiple major isoforms

J Tapial, KCH Ha, T Sterne-Weiler, A Gohr… - Genome …, 2017 - genome.cshlp.org
Alternative splicing (AS) generates remarkable regulatory and proteomic complexity in
metazoans. However, the functions of most AS events are not known, and programs of …

[HTML][HTML] RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

CJ Donnelly, PW Zhang, JT Pham, AR Haeusler… - Neuron, 2013 - cell.com
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 …

RNA therapeutics: beyond RNA interference and antisense oligonucleotides

R Kole, AR Krainer, S Altman - Nature reviews Drug discovery, 2012 - nature.com
Here, we discuss three RNA-based therapeutic technologies exploiting various
oligonucleotides that bind to RNA by base pairing in a sequence-specific manner yet have …

[HTML][HTML] Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions

JK Nussbacher, R Tabet, GW Yeo, C Lagier-Tourenne - Neuron, 2019 - cell.com
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 …

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 …

[HTML][HTML] Distal alternative last exons localize mRNAs to neural projections

JM Taliaferro, M Vidaki, R Oliveira, S Olson, L Zhan… - Molecular cell, 2016 - cell.com
Spatial restriction of mRNA to distinct subcellular locations enables local regulation and
synthesis of proteins. However, the organizing principles of mRNA localization remain …

[HTML][HTML] C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

P Fratta, S Mizielinska, AJ Nicoll, M Zloh, EMC Fisher… - Scientific reports, 2012 - nature.com
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 …