FIGURE 3: Impaired minor intron splicing in SMA and ALS. Many of the molecular defects observed in patient tissues or disease modelling systems ultimately converge on affecting the spliceosome and minor intron splicing. These include both gain- and loss-of-function mechanisms in the nucleus as well as in the cytoplasm. Defects linked with SMA are indicated with a yellow rectangle, while blue rectangles mark ALS-associated defects.