Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy

JW McGreevy, CH Hakim… - Disease models & …, 2015 - journals.biologists.com
Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disorder. It is caused
by loss-of-function mutations in the dystrophin gene. Currently, there is no cure. A highly …

[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) …

[HTML][HTML] A long noncoding RNA controls muscle differentiation by functioning as a competing endogenous RNA

M Cesana, D Cacchiarelli, I Legnini, T Santini… - Cell, 2011 - cell.com
Recently, a new regulatory circuitry has been identified in which RNAs can crosstalk with
each other by competing for shared microRNAs. Such competing endogenous RNAs …

Molecular and cellular mechanisms of skeletal muscle atrophy: an update

A Fanzani, VM Conraads, F Penna… - Journal of cachexia …, 2012 - Springer
Skeletal muscle atrophy is defined as a decrease in muscle mass and it occurs when protein
degradation exceeds protein synthesis. Potential triggers of muscle wasting are long-term …

Theoretic applicability of antisense‐mediated exon skipping for Duchenne muscular dystrophy mutations

A Aartsma‐Rus, I Fokkema, J Verschuuren… - Human …, 2009 - Wiley Online Library
Antisense‐mediated exon skipping aiming for reading frame restoration is currently a
promising therapeutic application for Duchenne muscular dystrophy (DMD). This approach …

Molecular mechanisms of muscular dystrophies: old and new players

KE Davies, KJ Nowak - Nature reviews Molecular cell biology, 2006 - nature.com
The study of the muscle cell in the muscular dystrophies (MDs) has shown that mutant
proteins result in perturbations of many cellular components. MDs have been associated …

Delivery is key: lessons learnt from developing splice‐switching antisense therapies

C Godfrey, LR Desviat, B Smedsrød… - EMBO molecular …, 2017 - embopress.org
The use of splice‐switching antisense therapy is highly promising, with a wealth of pre‐
clinical data and numerous clinical trials ongoing. Nevertheless, its potential to treat a variety …

miRNAs as serum biomarkers for Duchenne muscular dystrophy

D Cacchiarelli, I Legnini, J Martone… - EMBO molecular …, 2011 - embopress.org
Dystrophin absence in Duchenne muscular dystrophy (DMD) causes severe muscle
degeneration. We describe that, as consequence of fibre damage, specific muscle‐miRNAs …

Genetic therapies for RNA mis-splicing diseases

SM Hammond, MJA Wood - Trends in genetics, 2011 - cell.com
RNA mis-splicing diseases account for up to 15% of all inherited diseases, ranging from
neurological to myogenic and metabolic disorders. With greatly increased genomic …

MicroRNAs involved in molecular circuitries relevant for the Duchenne muscular dystrophy pathogenesis are controlled by the dystrophin/nNOS pathway

D Cacchiarelli, J Martone, E Girardi, M Cesana, T Incitti… - Cell metabolism, 2010 - cell.com
In Duchenne muscular dystrophy (DMD) the absence of dystrophin at the sarcolemma
delocalizes and downregulates nitric oxide synthase (nNOS); this alters S-nitrosylation of …