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
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 +3 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
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 +2 more sources
A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa [PDF]
Molecular Therapy: Nucleic Acids, 2023 Loss-of-function mutations in USH2A are among the most common causes of syndromic and non-syndromic retinitis pigmentosa (RP). We previously presented skipping of USH2A exon 13 as a promising treatment paradigm for USH2A-associated RP.
Renske T.W. Schellens +8 more
doaj +2 more sources
A unified mechanism for intron and exon definition and back-splicing [PDF]
Nature, 2019 The molecular mechanisms of exon definition and back-splicing are fundamental unanswered questions in pre-mRNA splicing. Here we report cryo-electron microscopy structures of the yeast spliceosomal E complex assembled on introns, providing a view of the ...
Xueni Li, Shiheng Liu, Lingdi Zhang
exaly +2 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
Effective exon skipping and dystrophin restoration by 2'-o-methoxyethyl antisense oligonucleotide in dystrophin-deficient mice. [PDF]
PLoS ONE, 2013 Antisense oligonucleotide (AO)-mediated exon-skipping therapy is one of the most promising therapeutic strategies for Duchenne Muscular Dystrophy (DMD) and several AO chemistries have been rigorously investigated. In this report, we focused on the effect
Lu Yang +8 more
doaj +1 more source
Biomolecules, 2023 Alternative splicing is an important mechanism in the process of eukaryotic nuclear mRNA precursors producing multiple protein products from a single gene.
Tomoki Ueda +7 more
doaj +1 more source