Brian J. Joseph

The paper identifies a neuron type-specific microexon in Ank3/ankyrin-G that modulates calcium activity and neuronal excitability through alternative splicing.

The paper identifies cell type-specific molecular changes in ALS patients, showing enrichment of genetic risk factors in extratelencephalic neurons and altered responses in oligodendrocytes and microglia.

The paper identifies CCAR1 as a splicing fidelity factor that regulates alternative splicing of FANCA and other genes, impacting DNA repair processes.

This study combines Ngn2 overexpression with small molecule patterning to efficiently generate lower induced Motor Neurons (liMoNes) from hPSCs, achieving high yields and functional characteristics.

This study shows that TBK1 deficiency in human motor neurons causes TDP-43 proteinopathy through lysosomal dysfunction, and restoring TBK1 rescues the pathology.

The paper shows the Drosophila Exon Junction Complex suppresses cryptic splice sites and prevents faulty mRNA resplicing.