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Exon Skipping of FcεRIβ for Allergic Diseases
2018Mast cells are key effector cells in allergic inflammation and consequently are ideal targets for new therapeutics. The high-affinity IgE receptor complex, FcεRI, plays a critical role in mast cell and basophil activation by allergens to drive the immediate allergic inflammatory response.
Glenn Cruse, Greer Arthur
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Cotranscriptional exon skipping in the genotoxic stress response [PDF]
Nature Structural & Molecular Biology, 2010 Pre-mRNA splicing is functionally coupled to transcription, and genotoxic stresses can enhance alternative exon inclusion by affecting elongating RNA polymerase II. We report here that various genotoxic stress inducers, including camptothecin (CPT), inhibit the interaction between Ewing's sarcoma proto-oncoprotein (EWS), an RNA polymerase II-associated
Lise Gratadou +10 more
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2012
Antisense-mediated exon skipping to restore the disrupted dystrophin reading frame is currently in clinical trials for Duchenne muscular dystrophy. This chapter describes the rationale of this approach and gives an overview of in vitro and in vivo experiments with antisense oligonucleotides and antisense genes.
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Antisense-mediated exon skipping to restore the disrupted dystrophin reading frame is currently in clinical trials for Duchenne muscular dystrophy. This chapter describes the rationale of this approach and gives an overview of in vitro and in vivo experiments with antisense oligonucleotides and antisense genes.
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Skipping of multiple CFTR exons is not a result of single exon omissions
Human Genetics, 1994The omission of complete exons in a proportion of mature transcripts has been shown for a variety of genes. In the case of the cystic fibrosis transmembrane conductance regulator gene, this phenomenon has previously been observed for exons 4, 9 and 12.
Jochen Reiss +3 more
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The association of nonsense codons with exon skipping
Mutation Research/Reviews in Mutation Research, 1998Some genes that contain premature nonsense codons express alternatively-spliced mRNA that has skipped the exon containing the nonsense codon. This paradoxical association of translation signals (nonsense codons) and RNA splicing has inspired numerous explanations. The first is based on the fact that premature nonsense codons often reduce mRNA abundance.
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Exon skipping therapy for Duchenne muscular dystrophy
Advanced Drug Delivery Reviews, 2015Duchenne muscular dystrophy (DMD) is caused mostly by internal deletions in the gene for dystrophin, a protein essential for maintaining muscle cell membrane integrity. These deletions abrogate the reading frame and the lack of dystrophin results in progressive muscle deterioration.
Ryszard Kole, Arthur M. Krieg
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T.P.21 Exon skipping for dysferlinopathies
Neuromuscular Disorders, 2012Abstract Mutations in the dysferlin encoding DYSF gene have been reported for limb-girdle muscular dystrophy 2B, miyoshi myopathy and distal myopathy with anterior tibial onset patients. Most patients have small mutations within exons, inducing premature stops or amino acid substitutions, which lead to protein instability or mislocalization.
Nisha Verwey +5 more
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Exon Skipping Quantification by Real-Time PCR
2012Antisense oligonucleotide (AON)-mediated exon skipping is a therapeutic approach for subsets of Duchenne muscular dystrophy (DMD) patients to ameliorate the severe DMD phenotype. Several groups have successfully induced exon skipping by AONs to reframe the mRNA in various patients carrying deletions, and phase I/II clinical trials are ongoing.
FERLINI, Alessandra, RIMESSI, Paola
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Antisense-Mediated Exon Skipping to Reframe Transcripts [PDF]
, 2012 Numerous genetic disorders are caused by loss-of-function mutations that disrupt the open reading frame of the gene either by nonsense or by frameshift (insertion, deletion, indel, or splicing) mutations. Most of the time, the result is the absence of functional protein synthesis due to mRNA degradation by nonsense-mediated mRNA decay, or rapid ...
N. Pironon +3 more
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Overview on Applications of Antisense-Mediated Exon Skipping
2012Antisense-mediated exon skipping has multiple therapeutic applications. This chapter gives an overview of how this tool has been employed to restore normal splicing for cryptic splicing mutations, to switch between alternative splicing isoforms, to induce exon inclusion, to correct the reading frame to allow the production of internally deleted ...
Willeke M. C. van Roon-Mom +1 more
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