PACS1 syndrome variant alters proteomic landscape of developing cortical organoids PACS1 syndrome is a neurodevelopmental disorder resulting from a unique de novo p.R203W variant in Phosphofurin Acidic Cluster Sorting protein 1 (PACS1). PACS1 encodes a multifunctional sorting protei...

Researchers from @nuautismcenter.bsky.social & Pitt now have a better understanding of the pathogenic mechanisms of #PACS1 syndrome. The team performed proteomic analysis on human brain #organoids with & without the genetic variant. 🧪

www.biorxiv.org/content/10.1...

📢 Today is PACS1 Related Syndrome Awareness Day!

Learn more in Unique’s PACS1-related syndrome guide: bit.ly/PACS1Guide

#PACS1 #RareChromosome #UniqueCharity