Development of exon skip** therapies for Duchenne muscular dystrophy: a critical review and a perspective on the outstanding issues

A Aartsma-Rus, V Straub, R Hemmings… - Nucleic acid …, 2017 - liebertpub.com
Duchenne muscular dystrophy (DMD) is a rare, severe, progressive muscle-wasting disease
leading to disability and premature death. Patients lack the muscle membrane-stabilizing …

[ΒΙΒΛΙΟ][B] RNA, the epicenter of genetic information

J Mattick, P Amaral - 2023 - library.oapen.org
The origin story and emergence of molecular biology is muddled. The early triumphs in
bacterial genetics and the complexity of animal and plant genomes complicate an intricate …

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

DE Frank, FJ Schnell, C Akana, SH El-Husayni… - Neurology, 2020 - neurology.org
Objective To report safety, pharmacokinetics, exon 53 skip**, and dystrophin expression
in golodirsen-treated patients with Duchenne muscular dystrophy (DMD) amenable to exon …

ALS-Associated FUS Mutations Result in Compromised FUS Alternative Splicing and Autoregulation

Y Zhou, S Liu, G Liu, A Öztürk, GG Hicks - PLoS genetics, 2013 - journals.plos.org
The gene encoding a DNA/RNA binding protein FUS/TLS is frequently mutated in
amyotrophic lateral sclerosis (ALS). Mutations commonly affect its carboxy-terminal nuclear …

Optimization of antisense-mediated exon skip** for Duchenne muscular dystrophy

K Dzierlega, T Yokota - Gene therapy, 2020 - nature.com
Duchenne muscular dystrophy (DMD) is one of the most common lethal muscle-wasting
disorders affecting young boys caused by mutations in the DMD gene. Exon skip** has …
A Aartsma-Rus, GJB Van Ommen - Rna, 2007 - rnajournal.cshlp.org
Antisense-mediated modulation of splicing is one of the few fields where antisense
oligonucleotides (AONs) have been able to live up to their expectations. In this approach …

The FSHD atrophic myotube phenotype is caused by DUX4 expression

C Vanderplanck, E Ansseau, S Charron, N Stricwant… - PloS one, 2011 - journals.plos.org
Background Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions in 4q35
within the D4Z4 repeat array in which we identified the dou ble homeobo x 4 (DUX4) gene …

Comparative analysis of antisense oligonucleotide sequences for targeted skip** of exon 51 during dystrophin pre-mRNA splicing in human muscle

V Arechavala-Gomeza, IR Graham… - Human Gene …, 2007 - liebertpub.com
Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene that
result in the absence of functional protein. In the majority of cases these are out-of-frame …

Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms

A Aartsma-Rus, L Van Vliet, M Hirschi, AAM Janson… - Molecular Therapy, 2009 - cell.com
Antisense oligonucleotides (AONs) can interfere with mRNA processing through RNase H–
mediated degradation, translational arrest, or modulation of splicing. The antisense …