The TDP-43 RNA-binding protein is found in abnormal cytoplasmic inclusions in affected motor neurons in almost all ALS cases, and mutations in the TDP-43 gene (TARDBP) cause a rare form of familial ...

Different genetic mutations can converge on the same downstream pathology. The C9ORF72 repeat expansion and progranulin haploinsufficiency both trigger the RNA-binding protein TDP-43 to abandon the ...

This study presents valuable findings implicating nuclear export in the regulation of protein condensate behaviour and TDP-43 phase behaviour, suggesting a link to pathogenic aggregation in ALS/FTD.