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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, Marie-Cécile De Cian, Marie-Cécile De Cian, Martin Dutertre, Gabriel Sanchez, Jérôme Barbier, Catherine Le Jossic-Corcos, Didier Auboeuf, Etienne Dardenne, Gwendal Dujardin, Laurent Corcos   +10 more
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The association of nonsense codons with exon skipping

Mutation Research/Reviews in Mutation Research, 1998
Some 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, 2015
Duchenne 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, 2012
Abstract 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, G.J.B. van Ommen, I. Houweling-Gazzoli, S.M. van der Maarel, Annemieke Aartsma-Rus, Peter Schneiderat   +5 more
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Recent advancements in exon-skipping therapies using antisense oligonucleotides and genome editing for the treatment of various muscular dystrophies

Expert Reviews in Molecular Medicine, 2019
Muscular dystrophy is a group of genetic disorders characterised by degeneration of muscles. Different forms of muscular dystrophy can show varying phenotypes with a wide range of age, severity and location of muscle deterioration.
Jaeho Hwang, T. Yokota
semanticscholar   +1 more source

Exon Skipping Quantification by Real-Time PCR

2012
Antisense 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, Sandrina Turczynski, Alain Hovnanian, Matthias Titeux   +3 more
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Overview on Applications of Antisense-Mediated Exon Skipping

2012
Antisense-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, Annemieke Aartsma-Rus   +1 more
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Histone modifications influence skipped exons inclusion

Journal of Bioinformatics and Computational Biology, 2017
Alternative splicing (AS), by which individual genes can produce multiple mRNA, associates with genomic complexity, disease, and development. Histone modifications show important roles in both transcription initiation and mRNA splicing. Here, we intended to find the link between AS and histone modifications in flanking regions through analyzing ...
Hongde Liu, Wenqiao Hu, Huan Huang, Xiao Sun, Yue Hou   +4 more
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Overview of Alternative Oligonucleotide Chemistries for Exon Skipping

2012
The chemistry of the oligonucleotide backbone is crucial to obtaining high activity in vivo in exon skipping applications. Apart from the ability to bind strongly and sequence-specifically to pre-mRNA targets, the type of backbone also influences cell delivery, in vivo pharmacology, bio-distribution, toxicology, and ultimately the therapeutic use in ...
Amer F. Saleh, Andrey A. Arzumanov, Michael J. Gait   +2 more
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