Caiwei Guo

Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction

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.

KIF5A downregulation in spinal muscular atrophy links axonal regeneration defects with ALS

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

TDP-43 suppression of ATP8A2 cryptic splicing implicates phosphatidylserine-driven neuroinflammation in ALS/FTD

This study identifies ATP8A2 as a TDP-43 target whose loss leads to PS exposure and neuroinflammation, suggesting immune cell inhibition as a therapeutic strategy for ALS-FTD and CAMRQ4.

TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changes

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

Tau polarizes an aging transcriptional signature to excitatory neurons and glia

The paper uses single-cell RNA-sequencing in Drosophila to show that tau pathology and aging affect different cell types, with tau primarily impacting excitatory neurons and glia.

TDP-43 represses cryptic exon inclusion in FTD/ALS gene UNC13A

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.

Integrated analysis of the aging brain transcriptome and proteome in tauopathy

The paper analyzes transcriptome and proteome changes in a Drosophila tauopathy model, identifying age- and Tau-induced gene expression differences and their cross-species implications.

Tau-mediated Disruption of the Spliceosome Triggers Cryptic RNA-splicing and Neurodegeneration in Alzheimer’s Disease

This study shows that Tau disrupts the spliceosome, leading to cryptic RNA splicing and neurodegeneration in Alzheimer’s disease.