Splice-Switching Therapy for Spinal Muscular Atrophy
AbstractSpinal 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
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Meijboom, K.E.; Wood, M.J.; McClorey, G. Splice-Switching Therapy for Spinal Muscular Atrophy. Genes 2017, 8, 161.
Meijboom KE, Wood MJ, McClorey G. Splice-Switching Therapy for Spinal Muscular Atrophy. Genes. 2017; 8(6):161.Chicago/Turabian Style
Meijboom, Katharina E.; Wood, Matthew J.; McClorey, Graham. 2017. "Splice-Switching Therapy for Spinal Muscular Atrophy." Genes 8, no. 6: 161.
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