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

ABSTRACT: 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, including antisense oligonucleotides (ASOs), traditional small molecules, and gene therapy. Expanding beyond SMN-centric therapeutics is important, as it is likely that the breadth of the patient spectrum and the inherent complexity of the disease will be difficult to address with a single therapeutic strategy. Several SMN-independent pathways that could impinge up

SUBMITTER: Kaifer KA 

PROVIDER: S-EPMC5333955 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature