A. Microsatellite expansions within transcribed regions with confirmed or potential RNA gain-of-function effects. The type and number of nucleotide repeats are indicated. (Fragile X-associated tremor ataxia syndrome, FXTAS; premature ovarian insufficiency, POI; Huntington’s disease, HD; spinocerebellar ataxias, SCAs; dentatorubral pallidoluysian atrophy, DRPLA; spinal and bulbar muscular atrophy, SBMA; Huntington’s disease like 2, HDL2).
B. Sequestration of MBLN1 in myotonic dystrophy (DM1).
C. Activation of protein kinase C (PKC) by the expanded CUG RNA induces hyperphosphorylation of CUGBP1, which stabilizes the protein.