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Article

The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy

1 Jan 2020

Abstract excerpt

Spinal muscular atrophy (SMA) is one of the leading causes of infant mortality. SMA is mostly caused by low levels of Survival Motor Neuron (SMN) protein due to deletion of or mutation in the SMN1 gene. Its nearly identical copy, SMN2, fails to compensate for the loss of SMN1 due to predominant skipping of exon 7. Correction of SMN2 exon 7 splicing by an antisense oligonucleotide (ASO), nusinersen (Spinraza™),...

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PMID: 33283185
DOI: 10.1177/2633105520973985

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