MTOR and spinal muscular atrophy, type 1: Both in vitro and in vivo studies provide support for impaired translation in SMA (35,36) and a comprehensive study involving rat primary neuron culture, fibroblasts from SMA Type I patients and neurons from a severe mouse model of SMA (Smn−/−;SMN2tg/0) demonstrated reduced de novo protein synthesis linked to mTOR signalling (37).