Yi Zeng

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 shows granulin deficiency leads to lysosomal buildup of a TMEM106B C-terminal fragment, explaining how TMEM106B alleles influence FTD risk.

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 accumulation of intracellular RNA lariats in DBR1-null cells reduces antiviral response by desensitizing dsRNA sensors.

The paper identifies a disease-associated motor neuron state in a mouse ALS model that precedes cell death and links it to human ALS genetic risk factors.

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.

Spliformer-V2 predicts and interprets tissue-specific effects of splice-altering variants, identifying disease-relevant genes and therapeutic targets in ALS.

The paper identifies a developmental mechanism involving PCF11 and Cbc in Drosophila spermatogenesis that regulates alternative polyadenylation site usage during differentiation.

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

The paper introduces CoLa-seq to profile splicing timing and identifies genetic factors influencing co-transcriptional splicing in human cells.