The role of AARS1 cryptic splicing in ALS: unravelling the mechanisms underlying neurodegeneration in TDP-43 proteinopathies

Amyotrophic lateral sclerosis (ALS) is a fatal and incurable neurodegenerative disease characterised by the loss of upper and lower motor neurons. The majority of ALS cases are sporadic and characterised by cytoplasmic mis-localisation of TDP-43, an RNA-binding protein that is predominantly nuclear under normal physiological conditions. The loss…