Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis.
Alison L HoganNatalie GrimaJennifer A FifitaEmily P McCannBenjamin HengSandrine Chan Moi FatSharlynn WuRam MaharjanAmy K CainLyndal HendenStephanie RaynerIngrid TarrKatharine Y ZhangQiongyi ZhaoZong-Hong ZhangAmanda WrightAlbert LeeMarco MorschShu YangKelly L WilliamsIan P BlairPublished in: Neuropathology and applied neurobiology (2021)
Our findings confirm dysregulation of SFPQ as a pathological feature of the central nervous system of ALS patients and indicate that investigation of the functional consequences of this pathology will provide insight into ALS biology.