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Through this study it was determined that ALS-associated mutations disrupt the TDP-43 protein which moderates essential RNA processing. This occurs during liquid-liquid phase separation, which is how cells organize many of their biochemical reactions in non-membrane compartments that are formed by separating from cytoplasm. This research is strongly supportive of the harmful loss of RNA processing functions found in ALS.[1]
- ^ Conicella, Alexander; Zerze, Gul; Mittal, Jeetain; Fawzi, Nicolas (6 September 2016). "ALS Mutations Disrupt Phase Separation Mediated by α-Helical Structure in the TDP-43 Low-Complexity C-Terminal Domain". ScienceDirect. 24 (9): 1435-1436.