Caitlin M. Rodriguez

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 ribosome profiling to analyze uORF translation in neuronal differentiation, finding that uORFs correlate with repressed CDS translation and buffer CDS translation shifts.

This study reactivates FMR1 transcription in FXS patient cells using CRISPR/dCAS9 and VP192, increasing FMRP levels and demonstrating a potential therapeutic approach for Fragile X Syndrome.