Tetsuya Akiyama

This study identifies TDP-43-dependent cryptic splicing events in synaptic and membrane excitability genes and shows they drive neuronal dysfunction in ALS and FTD.

The paper introduces Plate-C, a high-throughput method for whole-genome 3D architecture profiling, and identifies modulators of DNA structure across multiple biological pathways and cell types.

This study shows that SMN deficiency reduces KIF5A in SMA, impairing axon regeneration, and links SMA and ALS through KIF5A stabilization by SMN.

The paper shows that TDP-43 loss causes cryptic splicing events that are masked by nonsense-mediated decay, and inhibiting this decay reveals hundreds of novel splicing events.

The paper shows that three ALS-associated RBPs regulate UNC13A transcription by targeting REST, highlighting their role in synaptic integrity and ALS pathogenesis.

This study shows that TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changes affecting disease-relevant genes.

This study identifies RTN4R as a regulator of ataxin-2 levels and shows its potential as a therapeutic target for ALS and SCA2.

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 identifies Etidronate, an FDA-approved drug, as a method to lower ataxin-2 levels in neurons using a CRISPR screen and validates its efficacy in mice.

The paper uses iBRN to identify hub molecules in FUS-ALS, finding miR-125b-5p-TIMELESS and PRKDC as key regulators of DNA repair and stress granule formation.