Loss of nuclear <scp>TDP</scp>‐43 in amyotrophic lateral sclerosis (<scp>ALS</scp>) causes altered expression of splicing machinery and widespread dysregulation of <scp>RNA</scp> splicing in motor neurones

Abstract

Loss of nuclear TDP-43 is associated with RNA processing abnormalities in ALS motor neurones, patient-derived cells with mtTARDBP, and following artificial TDP-43 depletion, suggesting that splicing dysregulation directly contributes to disease pathogenesis. Key functional pathways affected include those central to RNA metabolism.