Results 1 to 10 of about 240,774 (259)
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 +3 more sources
Efficient Modulation of Exon Skipping via Antisense Circular RNAs. [PDF]
Research (Wash D C), 2023 Splice-switching antisense oligonucleotides (ASOs) and engineered U7 small nuclear ribonucleoprotein (U7 Sm OPT) are the most commonly used methods for exon skipping. However, challenges remain, such as limited organ delivery and repeated dosing for ASOs
Ren S +8 more
europepmc +2 more sources
Exon-Skipping in Duchenne Muscular Dystrophy
Journal of Neuromuscular Diseases, 2021 Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically described in the 19th century, the genetic foundation of DMD was not discovered until more than 100 years later. This genetic understanding opened the door to the development of genetic treatments for DMD.
Eric P. Hoffman +2 more
openaire +5 more sources
Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa [PDF]
Molecular Therapy: Nucleic Acids, 2019 Dystrophic epidermolysis bullosa (DEB) is a devastating blistering disease affecting skin and mucous membranes. It is caused by pathogenic variants in the COL7A1 gene encoding type VII collagen, and can be inherited dominantly or recessively.
Jeroen Bremer +9 more
doaj +7 more sources
The Future of Exon Skipping for Duchenne Muscular Dystrophy
Human Gene Therapy, 2023 Antisense oligonucleotide (ASO)-mediated exon skipping can restore the open reading frame of dystrophin transcripts for Duchenne muscular dystrophy (DMD) patients. This allows production of internally deleted dystrophin proteins as found in the later onset, less severely progressive Becker muscular dystrophy.
Annemieke Aartsma-Rus
openaire +4 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
Origin of exon skipping-rich transcriptomes in animals driven by evolution of gene architecture
Genome Biology, 2018 Background Alternative splicing, particularly through intron retention and exon skipping, is a major layer of pre-translational regulation in eukaryotes.
Xavier Grau-Bové +2 more
doaj +2 more sources
Scientific Reports, 2021 Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients could be amenable to exon 51, 53 or 45 skipping. We
Pablo Beckers +7 more
doaj +2 more sources
Biology Direct, 2019 ᅟ Animals are known to have higher rates of exon skipping than other eukaryotes. In a recent study, Grau-Bové et al. (Genome Biology 19:135, 2018) have used RNA-seq data across 65 eukaryotic species to investigate when and how this high prevalence of ...
Laszlo Patthy
doaj +2 more sources
Exon-skipping advances for Duchenne muscular dystrophy [PDF]
Human Molecular Genetics, 2018 Duchenne muscular dystrophy (DMD) is a fatal genetic disorder characterized by progressive muscle wasting that has currently no cure. Exon-skipping strategy represents one of the most promising therapeutic approaches that aim to restore expression of a shorter but functional dystrophin protein.
Philippine Aupy +2 more
openaire +4 more sources