Journal ArticleDOI
New Approach for Antisense Oligonucleotide-Mediated Exon Skipping in Duchenne Muscular Dystrophy
About:
This article is published in Journal of Advanced Computational Intelligence and Intelligent Informatics.The article was published on 2012-06-20. It has received 0 citations till now. The article focuses on the topics: Exon skipping & Duchenne muscular dystrophy.read more
References
More filters
Journal ArticleDOI
Dystrophin: The protein product of the duchenne muscular dystrophy locus
TL;DR: The identification of the mdx mouse as an animal model for DMD has important implications with regard to the etiology of the lethal DMD phenotype, and the protein dystrophin is named because of its identification via the isolation of the Duchenne muscular dystrophy locus.
Journal ArticleDOI
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
TL;DR: A molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus is presented and is applicable to potential 5' and 3' intron splice mutations and their effect on protein production and clinical phenotype.
Journal Article
The molecular basis for duchenne versus becker muscular dystrophy: correlation of severity with type of deletion
M. Koenig,Alan H. Beggs,M. Moyer,S. Scherpf,K. Heindrich,T. Bettecken,G Meng,C. R. Müller,M. Lindlöf,H. Kaariainen,A. de la Chapelle,A. Kiuru,M.-L. Savontaus,H. Gilgenkrantz,D. Récan,J. Chelly,Jean-Claude Kaplan,A. E. Covone,N. Archidiacono,Giovanni Romeo,S. Liechti-Gallati,V. Schneider,Suzanne Braga,H. Moser,Basil T. Darras,Patricia E. Murphy,Uta Francke,J. D. Chen,Graeme Morgan,Margaret Denton,Cheryl R. Greenberg,Klaus Wrogemann,L. A. J. Blonden,H.M.B. van Paassen,G.J.B. van Ommen,Louis M. Kunkel +35 more
TL;DR: The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features.
Journal ArticleDOI
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.
Sebahattin Cirak,Virginia Arechavala-Gomeza,Michela Guglieri,Lucy Feng,Silvia Torelli,Karen Anthony,Stephen Abbs,M. E. Garralda,John P. Bourke,Dominic J. Wells,George Dickson,Matthew J.A. Wood,Steve D. Wilton,Volker Straub,Ryszard Kole,Stephen B. Shrewsbury,Caroline Sewry,Jennifer E. Morgan,Kate Bushby,Francesco Muntoni +19 more
TL;DR: The safety and biochemical efficacy presented show the potential of AVI-4658 to become a disease-modifying drug for Duchenne muscular dystrophy.
Journal ArticleDOI
Local Dystrophin Restoration with Antisense Oligonucleotide PRO051
Judith C.T. van Deutekom,Anneke A.M. Janson,Ieke B. Ginjaar,Wendy S. Frankhuizen,Annemieke Aartsma-Rus,Mattie Bremmer-Bout,Johan T. den Dunnen,Klaas Koop,Anneke J. van der Kooi,Nathalie Goemans,Sjef J. de Kimpe,Peter F. Ekhart,Edna H. Venneker,Gerard Johannes Platenburg,Jan J.G.M. Verschuuren,Gert-Jan B. van Ommen +15 more
TL;DR: Intramuscular injection of antisense oligonucleotide PRO051 induced dystrophin synthesis in four patients with Duchenne's muscular dystrophy who had suitable mutations, suggesting that further studies might be feasible.