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

Abstract excerpt

AIMS: Loss of nuclear TDP-43 characterizes sporadic and most familial forms of amyotrophic lateral sclerosis (ALS). TDP-43 (encoded by TARDBP) has multiple roles in RNA processing. We aimed to determine whether (1) RNA splicing dysregulation is present in lower motor neurones in ALS and in a motor neurone-like cell model; and (2) TARDBP mutations (mtTARDBP) are associated with aberrant RNA splicing using...

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