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Ben Prosser Profile picture
Ben Prosser
@Prosser_Lab
Assoc. Prof @PennMedicine | Rare-disease dad. Trying to fix hearts AND brains. Myocytes, Microtubules, Heart Failure | ASOs, RNA, NeuroDevelopmental Disorders.
May 8, 2023 • 4 tweets • 2 min read
Our preprint on PTBP, alternative splicing, and ASOs for @cureSYNGAP1 is now out @NatureComms!

nature.com/articles/s4146…

🧵1/3 As a refresher, we mapped the neuronal splicing regulator PTBP2 for its binding and splicing across human cortex and iPSC-Neurons, and used these maps to guide a therapeutic ASO splice switching strategy to rescue SYNGAP1 haploinsufficiency.

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