Yuka Mitsuhashi Koike

This paper shows that enhancing TARDBP exitron splicing reduces TDP-43 aggregation and neurodegeneration in disease models using ASOs.

The paper shows that loss of TDP-43 function leads to the expression of de novo proteins from mis-spliced mRNA transcripts in ALS/FTD.

This study shows that TDP-43 represses a cryptic exon in UNC13A, and genetic variants associated with FTD/ALS increase cryptic exon inclusion when TDP-43 is dysfunctional.

The paper shows that age-related DNA demethylation in the TARDBP 3'UTR reduces alternative splicing and increases TARDBP mRNA expression in the human motor cortex, linking this to earlier ALS onset.