Literature DB >> 22454057

Overview on DMD exon skipping.

Annemieke Aartsma-Rus1.   

Abstract

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. Finally, an overview of clinical trials is given and outstanding questions and hurdles are discussed.

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Year:  2012        PMID： 22454057     DOI： 10.1007/978-1-61779-767-5_7

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN： 1064-3745


  22 in total

1.  The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Authors:  Philip M Boone; Bo Yuan; Ian M Campbell; Jennifer C Scull; Marjorie A Withers; Brett C Baggett; Christine R Beck; Christine J Shaw; Pawel Stankiewicz; Paolo Moretti; Wendy E Goodwin; Nichole Hein; John K Fink; Moon-Woo Seong; Soo Hyun Seo; Sung Sup Park; Izabela D Karbassi; Sat Dev Batish; Andrés Ordóñez-Ugalde; Beatriz Quintáns; María-Jesús Sobrido; Susanne Stemmler; James R Lupski
Journal:  Am J Hum Genet       Date:  2014-07-24       Impact factor: 11.025

2.  Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy.

Authors:  Trent A Waugh; Eric Horstick; Junguk Hur; Samuel W Jackson; Ann E Davidson; Xingli Li; James J Dowling
Journal:  Hum Mol Genet       Date:  2014-04-23       Impact factor: 6.150

3.  Gene Editing for Duchenne Muscular Dystrophy Using the CRISPR/Cas9 Technology: The Importance of Fine-tuning the Approach.

Authors:  Jacques P Tremblay; Jean-Paul Iyombe-Engembe; Benjamin Duchêne; Dominique L Ouellet
Journal:  Mol Ther       Date:  2016-11       Impact factor: 11.454

4.  Molecular dissection of dystrophin identifies the docking site for nNOS.

Authors:  Scott Q Harper
Journal:  Proc Natl Acad Sci U S A       Date:  2012-12-31       Impact factor: 11.205

5.  Global and disease-associated genetic variation in the human Fanconi anemia gene family.

Authors:  Kai J Rogers; Wenqing Fu; Joshua M Akey; Raymond J Monnat
Journal:  Hum Mol Genet       Date:  2014-08-07       Impact factor: 6.150

6.  ActRIIB:ALK4-Fc alleviates muscle dysfunction and comorbidities in murine models of neuromuscular disorders.

Authors:  Jia Li; Maureen Fredericks; Marishka Cannell; Kathryn Wang; Dianne Sako; Michelle C Maguire; Rosa Grenha; Katia Liharska; Lavanya Krishnan; Troy Bloom; Elitza P Belcheva; Pedro A Martinez; Roselyne Castonguay; Sarah Keates; Mark J Alexander; Hyunwoo Choi; Asya V Grinberg; R Scott Pearsall; Paul Oh; Ravindra Kumar; Rajasekhar Nvs Suragani
Journal:  J Clin Invest       Date:  2021-02-15       Impact factor: 14.808

Review 7.  Hanging on for the ride: adhesion to the extracellular matrix mediates cellular responses in skeletal muscle morphogenesis and disease.

Authors:  Michelle F Goody; Roger B Sher; Clarissa A Henry
Journal:  Dev Biol       Date:  2015-01-12       Impact factor: 3.582

8.  Prospect of gene therapy for cardiomyopathy in hereditary muscular dystrophy.

Authors:  Yongping Yue; Ibrahim M Binalsheikh; Stacey B Leach; Timothy L Domeier; Dongsheng Duan
Journal:  Expert Opin Orphan Drugs       Date:  2015-12-17       Impact factor: 0.694

9.  Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients.

Authors:  Caroline Le Guiner; Marie Montus; Laurent Servais; Yan Cherel; Virginie Francois; Jean-Laurent Thibaud; Claire Wary; Béatrice Matot; Thibaut Larcher; Lydie Guigand; Maeva Dutilleul; Claire Domenger; Marine Allais; Maud Beuvin; Amélie Moraux; Johanne Le Duff; Marie Devaux; Nicolas Jaulin; Mickaël Guilbaud; Virginie Latournerie; Philippe Veron; Sylvie Boutin; Christian Leborgne; Diana Desgue; Jack-Yves Deschamps; Sophie Moullec; Yves Fromes; Adeline Vulin; Richard H Smith; Nicolas Laroudie; Frédéric Barnay-Toutain; Christel Rivière; Stéphanie Bucher; Thanh-Hoa Le; Nicolas Delaunay; Mehdi Gasmi; Robert M Kotin; Gisèle Bonne; Oumeya Adjali; Carole Masurier; Jean-Yves Hogrel; Pierre Carlier; Philippe Moullier; Thomas Voit
Journal:  Mol Ther       Date:  2014-08-04       Impact factor: 11.454

Review 10.  Targeting RNA splicing for disease therapy.

Authors:  Mallory A Havens; Dominik M Duelli; Michelle L Hastings
Journal:  Wiley Interdiscip Rev RNA       Date:  2013-03-19       Impact factor: 9.957
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