PACS1 syndrome variant alters proteomic landscape of developing cortical organoids.

ABSTRACT: PACS1 syndrome is a neurodevelopmental disorder (NDD) resulting from a unique de novo p.R203W variant in Phosphofurin Acidic Cluster Sorting protein 1 (PACS1). PACS1 encodes a multifunctional sorting protein required for localizing furin to the trans-Golgi network. Although few studies have started to investigate the impact of the PACS1 p.R203W variant, the mechanisms by which the variant affects neurodevelopment are still poorly understood. In recent years, autism spectrum disorder (ASD) patient-derived brain organoids have been increasingly used to identify pathogenic mechanisms and possible therapeutic targets. While most of these studies evaluate the mechanisms by which ASD-risk genes affect the transcriptome, studies considering the proteome are limited. Here, we

SUBMITTER: Gomez-Maqueo X 

PROVIDER: S-EPMC12767366 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature