Giulia Romano

This study uses AAV2-delivered exon-specific U1 snRNA to correct ELP1 splicing and rescue optic neuropathy in a FD mouse model.

The paper shows that Su(var)3-9 increases H3K9 methylation on the TDP-43 promoter with age, leading to reduced TDP-43 expression and neurodegeneration in Drosophila, mice, and humans.

This study shows that TDP-43 regulates GAD1 mRNA splicing and GABA signaling in Drosophila brains, and that modulating GABA neurotransmission can reverse locomotion defects in TDP-43-deficient flies.

This study shows TDP-43 promotes neuromuscular synapse formation in Drosophila by regulating Disc-large expression, with similar mechanisms observed in human ALS tissues.