Literature DB >> 24486759

Antisense-mediated exon skipping: taking advantage of a trick from Mother Nature to treat rare genetic diseases.

Marcel Veltrop1, Annemieke Aartsma-Rus2.   

Abstract

Rare diseases can be caused by genetic mutations that disrupt normal pre-mRNA splicing. Antisense oligonucleotide treatment to the splicing thus has therapeutic potential for many rare diseases. In this review we will focus on the state of the art on exon skipping using antisense oligonucleotides as a potential therapy for rare genetic diseases, outlining how this versatile approach can be exploited to correct for different mutations.
Copyright © 2014 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Antisense oligonucleotides; Exon skipping; Rare disease; Splicing

Mesh:

Substances:

Year:  2014        PMID: 24486759     DOI: 10.1016/j.yexcr.2014.01.026

Source DB:  PubMed          Journal:  Exp Cell Res        ISSN: 0014-4827            Impact factor:   3.905


  19 in total

1.  Alternative pre-mRNA splicing of Toll-like receptor signaling components in peripheral blood mononuclear cells from patients with ARDS.

Authors:  Rachel Z Blumhagen; Brenna R Hedin; Kenneth C Malcolm; Ellen L Burnham; Marc Moss; Edward Abraham; Tristan J Huie; Jerry A Nick; Tasha E Fingerlin; Scott Alper
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2017-08-03       Impact factor: 5.464

Review 2.  Developing therapies for spinal muscular atrophy.

Authors:  Mary H Wertz; Mustafa Sahin
Journal:  Ann N Y Acad Sci       Date:  2015-07-14       Impact factor: 5.691

3.  Modulation of Splicing by Single-Stranded Silencing RNAs.

Authors:  Jing Liu; Jiaxin Hu; Jessica A Hicks; Thazha P Prakash; David R Corey
Journal:  Nucleic Acid Ther       Date:  2015-03-10       Impact factor: 5.486

4.  Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

Authors:  Wenqing Fu; Alessio Ligabue; Kai J Rogers; Joshua M Akey; Raymond J Monnat
Journal:  Hum Mutat       Date:  2016-12-09       Impact factor: 4.878

5.  Exon skipping of FcεRIβ eliminates expression of the high-affinity IgE receptor in mast cells with therapeutic potential for allergy.

Authors:  Glenn Cruse; Yuzhi Yin; Tomoki Fukuyama; Avanti Desai; Greer K Arthur; Wolfgang Bäumer; Michael A Beaven; Dean D Metcalfe
Journal:  Proc Natl Acad Sci U S A       Date:  2016-11-21       Impact factor: 11.205

6.  Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene.

Authors:  Alexandra E Oxford; Cheryl L Jorcyk; Julia Thom Oxford
Journal:  J Neurol Neuromedicine       Date:  2016

Review 7.  The genetic landscape of cardiomyopathy and its role in heart failure.

Authors:  Elizabeth M McNally; David Y Barefield; Megan J Puckelwartz
Journal:  Cell Metab       Date:  2015-02-03       Impact factor: 27.287

8.  Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application.

Authors:  Bastian Salewsky; Gabriele Hildebrand; Susanne Rothe; Ann Christin Parplys; Janina Radszewski; Moritz Kieslich; Petra Wessendorf; Harald Krenzlin; Kerstin Borgmann; André Nussenzweig; Karl Sperling; Martin Digweed
Journal:  Mol Ther       Date:  2015-08-12       Impact factor: 11.454

9.  Correcting the NLRP3 inflammasome deficiency in macrophages from autoimmune NZB mice with exon skipping antisense oligonucleotides.

Authors:  Sara J Thygesen; David P Sester; Simon O Cridland; Steve D Wilton; Katryn J Stacey
Journal:  Immunol Cell Biol       Date:  2016-02-02       Impact factor: 5.126

10.  Development and Application of an Ultrasensitive Hybridization-Based ELISA Method for the Determination of Peptide-Conjugated Phosphorodiamidate Morpholino Oligonucleotides.

Authors:  Umar Burki; Jonathan Keane; Alison Blain; Liz O'Donovan; Michael John Gait; Steven H Laval; Volker Straub
Journal:  Nucleic Acid Ther       Date:  2015-07-15       Impact factor: 5.486

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