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Splice-Switching Therapy for Spinal Muscular Atrophy

Department of Physiology, Anatomy and Genetics, University of Oxford, South Parks Road, Oxford OX1 3QX, UK
Author to whom correspondence should be addressed.
Academic Editors: Susan Fletcher and Steve Wilton
Genes 2017, 8(6), 161;
Received: 21 April 2017 / Revised: 26 May 2017 / Accepted: 2 June 2017 / Published: 12 June 2017
(This article belongs to the Special Issue Therapeutic Alternative Splicing: Mechanisms and Applications)
Spinal muscular atrophy (SMA) is a genetic disorder with severity ranging from premature death in infants to restricted motor function in adult life. Despite the genetic cause of this disease being known for over twenty years, only recently has a therapy been approved to treat the most severe form of this disease. Here we discuss the genetic basis of SMA and the subsequent studies that led to the utilization of splice switching oligonucleotides to enhance production of SMN protein, which is absent in patients, through a mechanism of exon inclusion into the mature mRNA. Whilst approval of oligonucleotide-based therapies for SMA should be celebrated, we also discuss some of the limitations of this approach and alternate genetic strategies that are currently underway in clinical trials. View Full-Text
Keywords: spinal muscular atrophy; splice-switching oligonucleotides; clinical trials spinal muscular atrophy; splice-switching oligonucleotides; clinical trials
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Meijboom, K.E.; Wood, M.J.; McClorey, G. Splice-Switching Therapy for Spinal Muscular Atrophy. Genes 2017, 8, 161.

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