Plastin-3 extends survival and reduces severity in mouse models of spinal muscular atrophy

Abstract excerpt

Spinal muscular atrophy (SMA) is a leading genetic cause of infantile death and is caused by the loss of survival motor neuron-1 ( SMN1 ). Importantly, a nearly identical gene is present called SMN2 ; however, the majority of SMN2 -derived transcripts are alternatively spliced and encode a truncated, dysfunctional protein. Recently, several compounds designed to increase SMN protein have entered clinical trials,...

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