Article

PACS1 syndrome variant alters proteomic landscape of developing cortical organoids

2025-04-23

Abstract excerpt

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 neurodevelopme...

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Literature Corpus work: 65f36495-45b6-5a92-ae02-d1b1664e31b7
DOI: 10.1101/2025.04.23.650290

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