Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models [PDF]
Molecular Therapy: Nucleic Acids, 2019 Systemic delivery of antisense oligonucleotides (AO) for DMD exon skipping has proven effective for reframing DMD mRNA, rescuing dystrophin expression, and slowing disease progression in animal models.
Florian Barthélémy +6 more
doaj +5 more sources
Analysis of Exon Skipping Applicability for Dysferlinopathies [PDF]
CellsExon skipping, mediated through antisense oligonucleotides (ASOs), is a promising approach to exclude pathogenic variants from the DYSF gene and treat dysferlinopathies.
Jamie Leckie +3 more
doaj +4 more sources
BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance [PDF]
Molecular CancerPARP inhibitor (PARPi) therapy has transformed outcomes for patients with homologous recombination DNA repair (HRR) deficient ovarian cancers, for example those with BRCA1 or BRCA2 gene defects. Unfortunately, PARPi resistance is common.
Ksenija Nesic +37 more
doaj +3 more sources
Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy [PDF]
BMC Medical Genetics, 2007 Background Antisense-mediated exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) targeting specific exons the DMD reading frame is restored and ...
van Ommen Gert-Jan B +3 more
doaj +4 more sources
Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping [PDF]
Molecular Therapy: Methods & Clinical Development, 2021 Duchenne muscular dystrophy (DMD) is an X-linked progressive disease characterized by loss of dystrophin protein that typically results from truncating mutations in the DMD gene.
Tabatha R. Simmons +5 more
doaj +2 more sources
SPLICER: a highly efficient base editing toolbox that enables in vivo therapeutic exon skipping [PDF]
Nature CommunicationsExon skipping technologies enable exclusion of targeted exons from mature mRNA transcripts, which have broad applications in medicine and biotechnology.
Angelo Miskalis +14 more
doaj +2 more sources
Podocyte specific exon skipping after disease onset improves kidney pathology and function in a mouse model of Alport syndrome [PDF]
Scientific ReportsAlport syndrome (AS) is a hereditary kidney disorder caused by mutations in COL4A3, COL4A4, and COL4A5, which often lead to progressive renal failure.
Kentarou Hashikami +4 more
doaj +2 more sources
From Mutation to Manifestation: Evaluation of a <i>PKLR</i> Gene Truncation Caused by Exon Skipping in a Schnauzer Terrier. [PDF]
Animals (Basel)Ma TY, Kuo CJ, Liu PC.
europepmc +3 more sources
Machine learning based CRISPR gRNA design for therapeutic exon skipping.
PLoS Computational Biology, 2021 Restoring gene function by the induced skipping of deleterious exons has been shown to be effective for treating genetic disorders. However, many of the clinically successful therapies for exon skipping are transient oligonucleotide-based treatments that
Wilson Louie +7 more
doaj +1 more source
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures. [PDF]
PLoS ONE, 2018 BACKGROUND:Duchenne muscular dystrophy is a lethal disease caused by lack of dystrophin. Skipping of exons adjacent to out-of-frame deletions has proven to restore dystrophin expression in Duchenne patients.
Monika Hiller +17 more
doaj +1 more source