Developments in reading frame restoring therapy approaches for Duchenne muscular dystrophy
TLDR
This work outlines developments for reading frame restoring approaches, challenges of mutation specificity, and optimizing delivery, and highlights ongoing efforts to better detect exon skipping therapeutic effects in clinical trials.Abstract:
Exon skipping compounds restoring the dystrophin transcript reading frame have received regulatory approval for Duchenne muscular dystrophy (DMD). Recently, focus shifted to developing compounds to...read more
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Journal Article
Eteplirsen for the Treatment of Duchenne Muscular Dystrophy (DMD) (S42.001)
Jay S. Charleston,F.J. Schnell,Johannes Dworzak,Cas Donoghue,J Lynch,Sarah Lewis,Lei Chen,Louise R. Rodino-Klapac,Zarife Sahenk,Jon Voss,U. DeAlwis,D. Frank,H Eliopoulos,J. Mendell +13 more
TL;DR: The present study used a double‐blind placebo‐controlled protocol to test eteplirsen's ability to induce dystrophin production and improve distance walked on the 6‐minute walk test.
Journal ArticleDOI
Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy.
TL;DR: The role of dystrophin protein in Duchenne muscular dystrophy (DMD) was elucidated in skeletal, smooth, and cardiac muscles, as well as in the brain this article.
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Antisense Oligonucleotide-Mediated Exon-skipping Therapies: Precision Medicine Spreading from Duchenne Muscular Dystrophy
TL;DR: In this article, an antisense oligonucleotide (ASO)-mediated exon skipping therapy was proposed for Duchenne muscular dystrophy (DMD), a noncurable, progressive muscle-wasting disease.
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Open reading frame correction using splice-switching antisense oligonucleotides for the treatment of cystic fibrosis
TL;DR: It is shown that CFTR lacking the amino acids encoding exon 23 is partially functional and responsive to corrector and modulator drugs currently in clinical use, and ASO-induced exon23 skipping rescued CFTR expression and chloride current in primary human bronchial epithelial cells isolated from a homozygote CFTR-W1282X patient.
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Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections.
Amaia Paredes‐Redondo,Peter Harley,Eleni Maniati,David Ryan,Sandra Louzada,Jinhong Meng,Anna Kowala,Beiyuan Fu,Fengtang Yang,Pentao Liu,Silvia Marino,Olivier Pourquié,Francesco Muntoni,Francesco Muntoni,Jun Wang,Ivo Lieberam,Yung-Yao Lin +16 more
TL;DR: In this paper, the neuromuscular junction (NMJ) of Duchenne muscular dystrophy (DMD) was found to be enriched in dystrophin gene mutations.
References
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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.
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ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering
TL;DR: A review of achievements made possible by site-specific nuclease technologies and applications of these reagents for genetic analysis and manipulation, including the therapeutic potential of ZFNs and TALENs, and future prospects for the field are discussed.
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The Complete Sequence of Dystrophin Predicts a Rod-Shaped Cytoskeletal Protein
M. Koenig,M. Koenig,Anthony P. Monaco,Anthony P. Monaco,Louis M. Kunkel,Louis M. Kunkel,Louis M. Kunkel +6 more
TL;DR: The complete sequence of the human Duchenne muscular dystrophy cDNA has been determined and dystrophin shares many features with the cytoskeletal protein spectrin and alpha-actinin and is likely to adopt a rod shape about 150 nm in length.
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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.
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In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy.
Christopher E. Nelson,Chady H. Hakim,David G. Ousterout,Pratiksha I. Thakore,Eirik A. Moreb,Ruth M. Castellanos Rivera,Sarina Madhavan,Xiufang Pan,F. Ann Ran,F. Ann Ran,Winston X. Yan,Winston X. Yan,Winston X. Yan,Aravind Asokan,Feng Zhang,Dongsheng Duan,Charles A. Gersbach +16 more
TL;DR: In this paper, an adeno-associated virus was used to deliver the clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9 system to the mdx mouse model of Duchenne muscular dystrophy (DMD) to remove the mutated exon 23 from the dystrophin gene.