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Splicing modulation therapy in the treatment of genetic diseases

Arechavala-Gomeza, V; Khoo, B; Aartsma-Rus, A; (2014) Splicing modulation therapy in the treatment of genetic diseases. The Application of Clinical Genetics , 7 pp. 245-252. 10.2147/TACG.S71506. Green open access

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Abstract

Antisense-mediated splicing modulation is a tool that can be exploited in several ways to provide a potential therapy for rare genetic diseases. This approach is currently being tested in clinical trials for Duchenne muscular dystrophy and spinal muscular atrophy. The present review outlines the versatility of the approach to correct cryptic splicing, modulate alternative splicing, restore the open reading frame, and induce protein knockdown, providing examples of each. Finally, we outline a possible path forward toward the clinical application of this approach for a wide variety of inherited rare diseases.

Type: Article
Title: Splicing modulation therapy in the treatment of genetic diseases
Location: New Zealand
Open access status: An open access version is available from UCL Discovery
DOI: 10.2147/TACG.S71506
Publisher version: http://dx.doi.org/10.2147/TACG.S71506
Language: English
Additional information: This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License (https://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.
Keywords: alternative splicing, antisense oligonucleotides, cryptic splicing, splicing, therapy
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/1459377
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